Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA.
The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.
Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.
An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.
A generic term for any circumscribed mass of foreign (e.g., lead or viruses) or metabolically inactive materials (e.g., ceroid or MALLORY BODIES), within the cytoplasm or nucleus of a cell. Inclusion bodies are in cells infected with certain filtrable viruses, observed especially in nerve, epithelial, or endothelial cells. (Stedman, 25th ed)
A rare form of DEMENTIA that is sometimes familial. Clinical features include APHASIA; APRAXIA; CONFUSION; ANOMIA; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the FRONTAL LOBE and TEMPORAL LOBE. Neuronal loss is maximal in the HIPPOCAMPUS, entorhinal cortex, and AMYGDALA. Some ballooned cortical neurons contain argentophylic (Pick) bodies. (From Brain Pathol 1998 Apr;8(2):339-54; Adams et al., Principles of Neurology, 6th ed, pp1057-9)
A multifunctional heterogeneous-nuclear ribonucleoprotein that may play a role in homologous DNA pairing and recombination. The N-terminal portion of protein is a potent transcriptional activator, while the C terminus is required for RNA binding. The name FUS refers to the fact that genetic recombination events result in fusion oncogene proteins (ONCOGENE PROTEINS, FUSION) that contain the N-terminal region of this protein. These fusion proteins have been found in myxoid liposarcoma (LIPOSARCOMA, MYXOID) and acute myeloid leukemia.
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.
Microtubule-associated proteins that are mainly expressed in neurons. Tau proteins constitute several isoforms and play an important role in the assembly of tubulin monomers into microtubules and in maintaining the cytoskeleton and axonal transport. Aggregation of specific sets of tau proteins in filamentous inclusions is the common feature of intraneuronal and glial fibrillar lesions (NEUROFIBRILLARY TANGLES; NEUROPIL THREADS) in numerous neurodegenerative disorders (ALZHEIMER DISEASE; TAUOPATHIES).
A progressive form of dementia characterized by the global loss of language abilities and initial preservation of other cognitive functions. Fluent and nonfluent subtypes have been described. Eventually a pattern of global cognitive dysfunction, similar to ALZHEIMER DISEASE, emerges. Pathologically, there are no Alzheimer or PICK DISEASE like changes, however, spongiform changes of cortical layers II and III are present in the TEMPORAL LOBE and FRONTAL LOBE. (From Brain 1998 Jan;121(Pt 1):115-26)
Regulatory proteins and peptides that are signaling molecules involved in the process of PARACRINE COMMUNICATION. They are generally considered factors that are expressed by one cell and are responded to by receptors on another nearby cell. They are distinguished from HORMONES in that their actions are local rather than distal.
The part of the cerebral hemisphere anterior to the central sulcus, and anterior and superior to the lateral sulcus.
Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions).
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration.
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Lower lateral part of the cerebral hemisphere responsible for auditory, olfactory, and semantic processing. It is located inferior to the lateral fissure and anterior to the OCCIPITAL LOBE.
A form of frontotemporal lobar degeneration and a progressive form of dementia characterized by motor speech impairment and AGRAMMATISM, with relative sparing of single word comprehension and semantic memory.
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
A highly conserved 76-amino acid peptide universally found in eukaryotic cells that functions as a marker for intracellular PROTEIN TRANSPORT and degradation. Ubiquitin becomes activated through a series of complicated steps and forms an isopeptide bond to lysine residues of specific proteins within the cell. These "ubiquitinated" proteins can be recognized and degraded by proteosomes or be transported to specific compartments within the cell.
Postmortem examination of the body.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Circumscribed masses of foreign or metabolically inactive materials, within the CELL NUCLEUS. Some are VIRAL INCLUSION BODIES.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Abnormal structures located in various parts of the brain and composed of dense arrays of paired helical filaments (neurofilaments and microtubules). These double helical stacks of transverse subunits are twisted into left-handed ribbon-like filaments that likely incorporate the following proteins: (1) the intermediate filaments: medium- and high-molecular-weight neurofilaments; (2) the microtubule-associated proteins map-2 and tau; (3) actin; and (4) UBIQUITINS. As one of the hallmarks of ALZHEIMER DISEASE, the neurofibrillary tangles eventually occupy the whole of the cytoplasm in certain classes of cell in the neocortex, hippocampus, brain stem, and diencephalon. The number of these tangles, as seen in post mortem histology, correlates with the degree of dementia during life. Some studies suggest that tangle antigens leak into the systemic circulation both in the course of normal aging and in cases of Alzheimer disease.
A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)
The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29)
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
Standardized clinical interview used to assess current psychopathology by scaling patient responses to the questions.
Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Tests designed to assess language behavior and abilities. They include tests of vocabulary, comprehension, grammar and functional use of language, e.g., Development Sentence Scoring, Receptive-Expressive Emergent Language Scale, Parsons Language Sample, Utah Test of Language Development, Michigan Language Inventory and Verbal Language Development Scale, Illinois Test of Psycholinguistic Abilities, Northwestern Syntax Screening Test, Peabody Picture Vocabulary Test, Ammons Full-Range Picture Vocabulary Test, and Assessment of Children's Language Comprehension.
A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)
Disturbances in mental processes related to learning, thinking, reasoning, and judgment.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Biochemical identification of mutational changes in a nucleotide sequence.
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH.
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.
Neurons which activate MUSCLE CELLS.
Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.
A cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)

Pleasurable emotional response to music: a case of neurodegenerative generalized auditory agnosia. (1/247)

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A case study of an emerging visual artist with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. (2/247)

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Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia. (3/247)

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TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. (4/247)

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Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. (5/247)

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Flavour processing in semantic dementia. (6/247)

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A new subtype of frontotemporal lobar degeneration with FUS pathology. (7/247)

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Quantitative proton magnetic resonance spectroscopy detects abnormalities in dorsolateral prefrontal cortex and motor cortex of patients with frontotemporal lobar degeneration. (8/247)

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Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by the progressive degeneration of the frontal and temporal lobes of the brain. These areas of the brain are involved in decision-making, behavior, emotion, and language. FTLD can be divided into several subtypes based on the specific clinical features and the underlying protein abnormalities.

The three main subtypes of FTLD are:

1. Behavioral variant frontotemporal dementia (bvFTD): This subtype is characterized by changes in personality, behavior, and judgment. People with bvFTD may lose their social inhibitions, become impulsive, or develop compulsive behaviors. They may also have difficulty with emotional processing and empathy.
2. Primary progressive aphasia (PPA): This subtype is characterized by the gradual deterioration of language skills. People with PPA may have difficulty speaking, understanding spoken or written language, or both. There are three subtypes of PPA: nonfluent/agrammatic variant, semantic variant, and logopenic variant.
3. Motor neuron disease (MND) with FTLD: This subtype is characterized by the degeneration of motor neurons, which are the nerve cells responsible for controlling voluntary muscle movements. People with MND with FTLD may develop symptoms of amyotrophic lateral sclerosis (ALS), such as muscle weakness, stiffness, and twitching, as well as cognitive and behavioral changes associated with FTLD.

The underlying protein abnormalities in FTLD include:

1. Tau protein: In some forms of FTLD, the tau protein accumulates and forms clumps called tangles inside nerve cells. This is also seen in Alzheimer's disease.
2. TDP-43 protein: In other forms of FTLD, the TDP-43 protein accumulates and forms clumps inside nerve cells.
3. Fused in sarcoma (FUS) protein: In a small number of cases, the FUS protein accumulates and forms clumps inside nerve cells.

FTLD is typically a progressive disorder, meaning that symptoms worsen over time. There is currently no cure for FTLD, but there are treatments available to help manage symptoms and improve quality of life.

Frontotemporal dementia (FTD) is a group of disorders caused by progressive degeneration of the frontal and temporal lobes of the brain. These areas of the brain are associated with personality, behavior, and language.

There are three main types of FTD:

1. Behavioral variant FTD (bvFTD): This type is characterized by changes in personality, behavior, and judgment. Individuals may become socially inappropriate, emotionally indifferent, or impulsive. They may lose interest in things they used to enjoy and have difficulty with tasks that require planning and organization.

2. Primary progressive aphasia (PPA): This type affects language abilities. There are two main subtypes of PPA: semantic dementia and progressive nonfluent aphasia. Semantic dementia is characterized by difficulty understanding words and objects, while progressive nonfluent aphasia is characterized by problems with speech production and articulation.

3. Motor neuron disease (MND) associated FTD: Some individuals with FTD may also develop motor neuron disease, which affects the nerves that control muscle movement. This can lead to weakness, stiffness, and wasting of muscles, as well as difficulty swallowing and speaking.

FTD is a degenerative disorder, meaning that symptoms get worse over time. There is no cure for FTD, but there are treatments available to help manage symptoms and improve quality of life. The exact cause of FTD is not known, but it is believed to be related to abnormalities in certain proteins in the brain. In some cases, FTD may run in families and be caused by genetic mutations.

TDP-43 proteinopathies refer to a group of neurodegenerative disorders characterized by the abnormal accumulation and aggregation of the TAR DNA-binding protein 43 (TDP-43) in neuronal and glial cells. The accumulated TDP-43 forms inclusions that are rich in ubiquitin and are a hallmark of these disorders.

TDP-43 is a nuclear protein involved in various cellular processes, including transcription, splicing, and transport of RNA. In TDP-43 proteinopathies, the protein undergoes post-translational modifications that lead to its mislocalization from the nucleus to the cytoplasm, where it forms aggregates.

TDP-43 proteinopathies include several neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and Alzheimer's disease (AD). In ALS, TDP-43 pathology is present in almost all cases, while in FTLD, it is found in about half of the cases. In AD, TDP-43 pathology is less common but still significant, particularly in patients with coexisting dementia.

TDP-43 proteinopathies are associated with various clinical manifestations depending on the specific disorder and the extent and location of TDP-43 aggregation. These manifestations include motor neuron degeneration, cognitive decline, behavioral changes, and language impairments. The underlying mechanisms leading to TDP-43 mislocalization and aggregation are not fully understood but are thought to involve genetic, environmental, and aging factors.

Dementia is a broad term that describes a decline in cognitive functioning, including memory, language, problem-solving, and judgment, severe enough to interfere with daily life. It is not a specific disease but rather a group of symptoms that may be caused by various underlying diseases or conditions. Alzheimer's disease is the most common cause of dementia, accounting for 60-80% of cases. Other causes include vascular dementia, Lewy body dementia, frontotemporal dementia, and Huntington's disease.

The symptoms of dementia can vary widely depending on the cause and the specific areas of the brain that are affected. However, common early signs of dementia may include:

* Memory loss that affects daily life
* Difficulty with familiar tasks
* Problems with language or communication
* Difficulty with visual and spatial abilities
* Misplacing things and unable to retrace steps
* Decreased or poor judgment
* Withdrawal from work or social activities
* Changes in mood or behavior

Dementia is a progressive condition, meaning that symptoms will gradually worsen over time. While there is currently no cure for dementia, early diagnosis and treatment can help slow the progression of the disease and improve quality of life for those affected.

Inclusion bodies are abnormal, intracellular accumulations or aggregations of various misfolded proteins, protein complexes, or other materials within the cells of an organism. They can be found in various tissues and cell types and are often associated with several pathological conditions, including infectious diseases, neurodegenerative disorders, and genetic diseases.

Inclusion bodies can vary in size, shape, and location depending on the specific disease or condition. Some inclusion bodies have a characteristic appearance under the microscope, such as eosinophilic (pink) staining with hematoxylin and eosin (H&E) histological stain, while others may require specialized stains or immunohistochemical techniques to identify the specific misfolded proteins involved.

Examples of diseases associated with inclusion bodies include:

1. Infectious diseases: Some viral infections, such as HIV, hepatitis B and C, and herpes simplex virus, can lead to the formation of inclusion bodies within infected cells.
2. Neurodegenerative disorders: Several neurodegenerative diseases are characterized by the presence of inclusion bodies, including Alzheimer's disease (amyloid-beta plaques and tau tangles), Parkinson's disease (Lewy bodies), Huntington's disease (Huntingtin aggregates), and amyotrophic lateral sclerosis (TDP-43 and SOD1 inclusions).
3. Genetic diseases: Certain genetic disorders, such as Danon disease, neuronal intranuclear inclusion disease, and some lysosomal storage disorders, can also present with inclusion bodies due to the accumulation of abnormal proteins or metabolic products within cells.

The exact role of inclusion bodies in disease pathogenesis remains unclear; however, they are often associated with cellular dysfunction, oxidative stress, and increased inflammation, which can contribute to disease progression and neurodegeneration.

Pick's disease, also known as Frontotemporal dementia (FTD), is a rare form of degenerative brain disorder that affects the frontal and temporal lobes of the brain. It is characterized by progressive shrinkage (atrophy) of these regions, resulting in a decline in cognitive abilities, behavioral changes, and language difficulties.

The medical definition of Pick's disease includes the following key features:

1. Progressive deterioration of cognitive functions, including memory, judgment, and problem-solving skills.
2. Changes in personality, emotional blunting, and loss of social inhibitions.
3. Language difficulties, such as difficulty with word finding, grammar, and comprehension.
4. Presence of abnormal protein deposits called Pick bodies or Pick cells in the affected brain regions.
5. Exclusion of other causes of dementia, such as Alzheimer's disease, vascular dementia, or Lewy body dementia.

Pick's disease typically affects people between the ages of 40 and 60, and it tends to progress more rapidly than other forms of dementia. Currently, there is no cure for Pick's disease, and treatment focuses on managing symptoms and improving quality of life.

FUS (Fused in Sarcoma) is a protein that in humans is encoded by the FUS gene. It is primarily located in the nucleus of the cell, but can also be found in the cytoplasm. FUS belongs to the family of RNA-binding proteins, which means it has the ability to bind to RNA molecules and play a role in post-transcriptional regulation of gene expression.

FUS has several functions, including:

1. Transcriptional regulation: FUS can interact with transcription factors and modulate the transcription of genes.
2. mRNA processing: FUS is involved in various aspects of mRNA processing, such as splicing, transport, localization, and stability.
3. DNA repair: FUS plays a role in DNA damage response and repair mechanisms.
4. Translational regulation: FUS can also regulate translation by interacting with ribosomes and other translational factors.

Mutations in the FUS gene have been associated with several neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). These mutations often lead to an abnormal cytoplasmic accumulation of FUS protein, which can form aggregates and contribute to the pathogenesis of these diseases.

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord responsible for controlling voluntary muscle movements, such as speaking, walking, breathing, and swallowing. The condition is characterized by the degeneration of motor neurons in the brain (upper motor neurons) and spinal cord (lower motor neurons), leading to their death.

The term "amyotrophic" comes from the Greek words "a" meaning no or negative, "myo" referring to muscle, and "trophic" relating to nutrition. When a motor neuron degenerates and can no longer send impulses to the muscle, the muscle becomes weak and eventually atrophies due to lack of use.

The term "lateral sclerosis" refers to the hardening or scarring (sclerosis) of the lateral columns of the spinal cord, which are primarily composed of nerve fibers that carry information from the brain to the muscles.

ALS is often called Lou Gehrig's disease, named after the famous American baseball player who was diagnosed with the condition in 1939. The exact cause of ALS remains unknown, but it is believed to involve a combination of genetic and environmental factors. There is currently no cure for ALS, and treatment primarily focuses on managing symptoms and maintaining quality of life.

The progression of ALS varies from person to person, with some individuals experiencing rapid decline over just a few years, while others may have a more slow-progressing form of the disease that lasts several decades. The majority of people with ALS die from respiratory failure within 3 to 5 years after the onset of symptoms. However, approximately 10% of those affected live for 10 or more years following diagnosis.

Atrophy is a medical term that refers to the decrease in size and wasting of an organ or tissue due to the disappearance of cells, shrinkage of cells, or decreased number of cells. This process can be caused by various factors such as disuse, aging, degeneration, injury, or disease.

For example, if a muscle is immobilized for an extended period, it may undergo atrophy due to lack of use. Similarly, certain medical conditions like diabetes, cancer, and heart failure can lead to the wasting away of various tissues and organs in the body.

Atrophy can also occur as a result of natural aging processes, leading to decreased muscle mass and strength in older adults. In general, atrophy is characterized by a decrease in the volume or weight of an organ or tissue, which can have significant impacts on its function and overall health.

DNA repeat expansion is a genetic alteration in which a particular sequence of DNA base pairs is repeated multiple times. In normal genes, these repeats are relatively short and stable, but in certain diseases, the number of repeats can expand beyond a threshold, leading to changes in the structure or function of the gene. This type of mutation is often associated with neurological and neuromuscular disorders, such as Huntington's disease, myotonic dystrophy, and fragile X syndrome. The expanded repeats can also be unstable and may increase in size over generations, leading to more severe symptoms or earlier age of onset.

Tau proteins are a type of microtubule-associated protein (MAP) found primarily in neurons of the central nervous system. They play a crucial role in maintaining the stability and structure of microtubules, which are essential components of the cell's cytoskeleton. Tau proteins bind to and stabilize microtubules, helping to regulate their assembly and disassembly.

In Alzheimer's disease and other neurodegenerative disorders known as tauopathies, tau proteins can become abnormally hyperphosphorylated, leading to the formation of insoluble aggregates called neurofibrillary tangles (NFTs) within neurons. These aggregates disrupt the normal function of microtubules and contribute to the degeneration and death of nerve cells, ultimately leading to cognitive decline and other symptoms associated with these disorders.

Primary Progressive Aphasia (PPA) is a neurological disorder characterized by progressive loss of language capabilities, while other cognitive abilities remain preserved. It is a type of dementia that primarily affects speech and language. Unlike other forms of aphasia that result from stroke or head injury, PPA is degenerative and gets worse over time.

There are three main types of PPA:

1. Semantic Variant PPA (svPPA): This type is characterized by difficulty in understanding words and objects, despite having no trouble with the mechanics of speech or writing. Over time, people with svPPA may lose their ability to understand spoken or written language, as well as to recognize objects and faces.

2. Nonfluent/Agrammatic Variant PPA (nfvPPA): This type is characterized by difficulty with speaking and writing, including producing grammatical sentences and articulating words. People with nfvPPA may also have problems with understanding spoken language, particularly when it comes to complex sentences or ambiguous phrases.

3. Logopenic Variant PPA (lvPPA): This type is characterized by difficulty with word-finding and sentence repetition, while speech remains fluent. People with lvPPA may also have problems with understanding spoken language, particularly when it comes to complex sentences or ambiguous phrases.

The exact cause of PPA is not known, but it is believed to be related to degeneration of specific areas of the brain involved in language processing, such as Broca's area and Wernicke's area. There is currently no cure for PPA, but speech and language therapy can help to slow down the progression of the disorder and improve communication skills.

Intercellular signaling peptides and proteins are molecules that mediate communication and interaction between different cells in living organisms. They play crucial roles in various biological processes, including cell growth, differentiation, migration, and apoptosis (programmed cell death). These signals can be released into the extracellular space, where they bind to specific receptors on the target cell's surface, triggering intracellular signaling cascades that ultimately lead to a response.

Peptides are short chains of amino acids, while proteins are larger molecules made up of one or more polypeptide chains. Both can function as intercellular signaling molecules by acting as ligands for cell surface receptors or by being cleaved from larger precursor proteins and released into the extracellular space. Examples of intercellular signaling peptides and proteins include growth factors, cytokines, chemokines, hormones, neurotransmitters, and their respective receptors.

These molecules contribute to maintaining homeostasis within an organism by coordinating cellular activities across tissues and organs. Dysregulation of intercellular signaling pathways has been implicated in various diseases, such as cancer, autoimmune disorders, and neurodegenerative conditions. Therefore, understanding the mechanisms underlying intercellular signaling is essential for developing targeted therapies to treat these disorders.

The frontal lobe is the largest lobes of the human brain, located at the front part of each cerebral hemisphere and situated in front of the parietal and temporal lobes. It plays a crucial role in higher cognitive functions such as decision making, problem solving, planning, parts of social behavior, emotional expressions, physical reactions, and motor function. The frontal lobe is also responsible for what's known as "executive functions," which include the ability to focus attention, understand rules, switch focus, plan actions, and inhibit inappropriate behaviors. It is divided into five areas, each with its own specific functions: the primary motor cortex, premotor cortex, Broca's area, prefrontal cortex, and orbitofrontal cortex. Damage to the frontal lobe can result in a wide range of impairments, depending on the location and extent of the injury.

Neuropsychological tests are a type of psychological assessment that measures cognitive functions, such as attention, memory, language, problem-solving, and perception. These tests are used to help diagnose and understand the cognitive impact of neurological conditions, including dementia, traumatic brain injury, stroke, Parkinson's disease, and other disorders that affect the brain.

The tests are typically administered by a trained neuropsychologist and can take several hours to complete. They may involve paper-and-pencil tasks, computerized tasks, or interactive activities. The results of the tests are compared to normative data to help identify any areas of cognitive weakness or strength.

Neuropsychological testing can provide valuable information for treatment planning, rehabilitation, and assessing response to treatment. It can also be used in research to better understand the neural basis of cognition and the impact of neurological conditions on cognitive function.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Broca's aphasia, also known as expressive aphasia or nonfluent aphasia, is a type of language disorder that results from damage to the brain's Broca's area, which is located in the frontal lobe of the dominant hemisphere (usually the left).

Individuals with Broca's aphasia have difficulty producing spoken or written language. They often know what they want to say but have trouble getting the words out, resulting in short and grammatically simplified sentences. Speech may be slow, laborious, and agrammatic, with limited vocabulary and poor sentence structure. Comprehension of language is typically less affected than expression, although individuals with Broca's aphasia may have difficulty understanding complex grammatical structures or following rapid speech.

It's important to note that the severity and specific symptoms of Broca's aphasia can vary depending on the extent and location of the brain damage. Rehabilitation and therapy can help improve language skills in individuals with Broca's aphasia, although recovery may be slow and limited.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Alzheimer's disease is a progressive disorder that causes brain cells to waste away (degenerate) and die. It's the most common cause of dementia — a continuous decline in thinking, behavioral and social skills that disrupts a person's ability to function independently.

The early signs of the disease include forgetting recent events or conversations. As the disease progresses, a person with Alzheimer's disease will develop severe memory impairment and lose the ability to carry out everyday tasks.

Currently, there's no cure for Alzheimer's disease. However, treatments can temporarily slow the worsening of dementia symptoms and improve quality of life.

Tauopathies are a group of neurodegenerative disorders that are characterized by the abnormal accumulation and aggregation of the microtubule-associated protein Tau in neurons and glial cells. These misfolded Tau proteins form insoluble inclusions, such as neurofibrillary tangles (NFTs) and neuropil threads, which are associated with the degeneration and loss of neurons in specific regions of the brain.

Tauopathies include several well-known diseases, such as Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal dementia with Parkinsonism-17 (FTDP-17). The exact cause of Tauopathies remains unclear, but genetic mutations, environmental factors, or a combination of both may contribute to the development and progression of these disorders.

The accumulation of abnormal Tau aggregates is believed to play a central role in the neurodegenerative process, leading to cognitive decline, motor impairment, and other neurological symptoms associated with Tauopathies. The diagnosis of Tauopathies typically involves clinical evaluation, imaging studies, and sometimes postmortem examination of brain tissue. Currently, there are no effective disease-modifying treatments for Tauopathies, but ongoing research is focused on developing therapies that target Tau aggregation and clearance to slow down or halt the progression of these debilitating disorders.

Motor Neuron Disease (MND) is a progressive neurodegenerative disorder that affects the motor neurons, which are nerve cells in the brain and spinal cord responsible for controlling voluntary muscles involved in movement, speaking, breathing, and swallowing. As the motor neurons degenerate and die, they stop sending signals to the muscles, causing them to weaken, waste away (atrophy), and eventually lead to paralysis.

There are several types of MND, including:

1. Amyotrophic Lateral Sclerosis (ALS): Also known as Lou Gehrig's disease, this is the most common form of MND. It affects both upper and lower motor neurons, causing muscle weakness, stiffness, twitching, and atrophy throughout the body.
2. Progressive Bulbar Palsy (PBP): This type primarily affects the bulbar muscles in the brainstem, which control speech, swallowing, and chewing. Patients with PBP experience difficulties with speaking, slurred speech, and problems swallowing and may also have weak facial muscles and limb weakness.
3. Primary Lateral Sclerosis (PLS): This form of MND affects only the upper motor neurons, causing muscle stiffness, spasticity, and weakness, primarily in the legs. PLS progresses more slowly than ALS, and patients usually maintain their ability to speak and swallow for a longer period.
4. Progressive Muscular Atrophy (PMA): This type of MND affects only the lower motor neurons, causing muscle wasting, weakness, and fasciculations (muscle twitches). PMA progresses more slowly than ALS but can still be severely disabling over time.
5. Spinal Muscular Atrophy (SMA): This is a genetic form of MND that typically presents in infancy or childhood, although adult-onset forms exist. SMA affects the lower motor neurons in the spinal cord, causing muscle weakness and atrophy, primarily in the legs and trunk.

The exact cause of Motor Neuron Disease is not fully understood, but it is believed to involve a combination of genetic, environmental, and lifestyle factors. There is currently no cure for MND, and treatment focuses on managing symptoms, maintaining quality of life, and slowing disease progression through various therapies and medications.

The temporal lobe is one of the four main lobes of the cerebral cortex in the brain, located on each side of the head roughly level with the ears. It plays a major role in auditory processing, memory, and emotion. The temporal lobe contains several key structures including the primary auditory cortex, which is responsible for analyzing sounds, and the hippocampus, which is crucial for forming new memories. Damage to the temporal lobe can result in various neurological symptoms such as hearing loss, memory impairment, and changes in emotional behavior.

Primary Progressive Nonfluent Aphasia (PPNA) is a rare type of dementia that primarily affects language abilities. According to the National Aphasia Association, it is characterized by progressive difficulty with speaking and writing, while comprehension of single words and object knowledge remains relatively intact. The "nonfluent" descriptor refers to the hesitant, effortful, and halting speech pattern observed in individuals with this condition.

The Medical Subject Headings (MeSH) term provided by the National Library of Medicine defines PPNA as:

"A progressive aphasia characterized by agrammatism and/or anomia with relatively preserved single word comprehension and object knowledge. This condition often, but not always, begins between the sixth and seventh decades of life. As the disorder progresses, it may be accompanied by ideomotor apraxia, alien hand syndrome, and elements of corticobasal degeneration."

It is important to note that PPNA is a clinical diagnosis, and there are currently no established biomarkers or imaging techniques to definitively diagnose this condition. The underlying neuropathology may vary between individuals with PPNA, but the most common causes include frontotemporal lobar degeneration (FTLD) and corticobasal degeneration (CBD).

Progressive Supranuclear Palsy (PSP) is a rare neurological disorder characterized by the progressive degeneration of brain cells that regulate movement, thoughts, behavior, and eye movements. The term "supranuclear" refers to the location of the damage in the brain, specifically above the level of the "nuclei" which are clusters of nerve cells that control voluntary movements.

The most common early symptom of PSP is a loss of balance and difficulty coordinating eye movements, particularly vertical gaze. Other symptoms may include stiffness or rigidity of muscles, slowness of movement, difficulty swallowing, changes in speech and writing, and cognitive decline leading to dementia.

PSP typically affects people over the age of 60, and its progression can vary from person to person. Currently, there is no cure for PSP, and treatment is focused on managing symptoms and maintaining quality of life.

Neurodegenerative diseases are a group of disorders characterized by progressive and persistent loss of neuronal structure and function, often leading to cognitive decline, functional impairment, and ultimately death. These conditions are associated with the accumulation of abnormal protein aggregates, mitochondrial dysfunction, oxidative stress, chronic inflammation, and genetic mutations in the brain. Examples of neurodegenerative diseases include Alzheimer's disease, Parkinson's disease, Huntington's disease, Amyotrophic Lateral Sclerosis (ALS), and Spinal Muscular Atrophy (SMA). The underlying causes and mechanisms of these diseases are not fully understood, and there is currently no cure for most neurodegenerative disorders. Treatment typically focuses on managing symptoms and slowing disease progression.

Nerve degeneration, also known as neurodegeneration, is the progressive loss of structure and function of neurons, which can lead to cognitive decline, motor impairment, and various other symptoms. This process occurs due to a variety of factors, including genetics, environmental influences, and aging. It is a key feature in several neurological disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and multiple sclerosis. The degeneration can affect any part of the nervous system, leading to different symptoms depending on the location and extent of the damage.

Ubiquitin is a small protein that is present in all eukaryotic cells and plays a crucial role in the regulation of various cellular processes, such as protein degradation, DNA repair, and stress response. It is involved in marking proteins for destruction by attaching to them, a process known as ubiquitination. This modification can target proteins for degradation by the proteasome, a large protein complex that breaks down unneeded or damaged proteins in the cell. Ubiquitin also has other functions, such as regulating the localization and activity of certain proteins. The ability of ubiquitin to modify many different proteins and play a role in multiple cellular processes makes it an essential player in maintaining cellular homeostasis.

An autopsy, also known as a post-mortem examination or obduction, is a medical procedure in which a qualified professional (usually a pathologist) examines a deceased person's body to determine the cause and manner of death. This process may involve various investigative techniques, such as incisions to study internal organs, tissue sampling, microscopic examination, toxicology testing, and other laboratory analyses. The primary purpose of an autopsy is to gather objective evidence about the medical conditions and factors contributing to the individual's demise, which can be essential for legal, insurance, or public health purposes. Additionally, autopsies can provide valuable insights into disease processes and aid in advancing medical knowledge.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Intranuclear inclusion bodies are abnormal, rounded structures found within the nucleus of a cell. They are composed of aggregated proteins or other cellular components and can be associated with various viral infections and certain genetic disorders. These inclusion bodies can interfere with normal nuclear functions, leading to cell damage and contributing to the pathogenesis of diseases such as cytomegalovirus infection, rabies, and some forms of neurodegenerative disorders like polyglutamine diseases. The presence of intranuclear inclusion bodies is often used in diagnostic pathology to help identify specific underlying conditions.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Neurofibrillary tangles are a pathological hallmark of several neurodegenerative disorders, most notably Alzheimer's disease. They are intracellular inclusions composed of abnormally phosphorylated and aggregated tau protein, which forms paired helical filaments. These tangles accumulate within the neurons, leading to their dysfunction and eventual death. The presence and density of neurofibrillary tangles are strongly associated with cognitive decline and disease progression in Alzheimer's disease and other related dementias.

Aphasia is a medical condition that affects a person's ability to communicate. It is caused by damage to the language areas of the brain, most commonly as a result of a stroke or head injury. Aphasia can affect both spoken and written language, making it difficult for individuals to express their thoughts, understand speech, read, or write.

There are several types of aphasia, including:

1. Expressive aphasia (also called Broca's aphasia): This type of aphasia affects a person's ability to speak and write clearly. Individuals with expressive aphasia know what they want to say but have difficulty forming the words or sentences to communicate their thoughts.
2. Receptive aphasia (also called Wernicke's aphasia): This type of aphasia affects a person's ability to understand spoken or written language. Individuals with receptive aphasia may struggle to follow conversations, comprehend written texts, or make sense of the words they hear or read.
3. Global aphasia: This is the most severe form of aphasia and results from extensive damage to the language areas of the brain. People with global aphasia have significant impairments in both their ability to express themselves and understand language.
4. Anomic aphasia: This type of aphasia affects a person's ability to recall the names of objects, people, or places. Individuals with anomic aphasia can speak in complete sentences but often struggle to find the right words to convey their thoughts.

Treatment for aphasia typically involves speech and language therapy, which aims to help individuals regain as much communication ability as possible. The success of treatment depends on various factors, such as the severity and location of the brain injury, the individual's motivation and effort, and the availability of support from family members and caregivers.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Apraxia is a motor disorder characterized by the inability to perform learned, purposeful movements despite having the physical ability and mental understanding to do so. It is not caused by weakness, paralysis, or sensory loss, and it is not due to poor comprehension or motivation.

There are several types of apraxias, including:

1. Limb-Kinematic Apraxia: This type affects the ability to make precise movements with the limbs, such as using tools or performing complex gestures.
2. Ideomotor Apraxia: In this form, individuals have difficulty executing learned motor actions in response to verbal commands or visual cues, but they can still perform the same action when given the actual object to use.
3. Ideational Apraxia: This type affects the ability to sequence and coordinate multiple steps of a complex action, such as dressing oneself or making coffee.
4. Oral Apraxia: Also known as verbal apraxia, this form affects the ability to plan and execute speech movements, leading to difficulties with articulation and speech production.
5. Constructional Apraxia: This type impairs the ability to draw, copy, or construct geometric forms and shapes, often due to visuospatial processing issues.

Apraxias can result from various neurological conditions, such as stroke, brain injury, dementia, or neurodegenerative diseases like Parkinson's disease and Alzheimer's disease. Treatment typically involves rehabilitation and therapy focused on retraining the affected movements and compensating for any residual deficits.

Prosopagnosia is a neurological disorder characterized by the inability to recognize or remember faces, even those of familiar people such as family members and friends. This condition often results from brain damage, particularly to the fusiform gyrus area located in the temporal lobe, which is responsible for facial recognition and memory.

Individuals with prosopagnosia may have difficulty distinguishing between faces, sometimes even mistaking their own reflection or confusing family members with strangers. However, they can still recognize people through other means, such as voice, hairstyle, clothing, or gait. Prosopagnosia can be congenital (present at birth) or acquired due to brain injury or disease.

There are two main types of prosopagnosia: developmental (or congenital) and acquired. Developmental prosopagnosia is present from birth and tends to run in families, suggesting a genetic component. Acquired prosopagnosia occurs after brain damage due to stroke, trauma, or degenerative diseases like dementia.

Prosopagnosia can significantly impact social interactions and relationships, causing distress and isolation for those affected. Currently, there is no cure for this condition; however, various strategies and techniques can help individuals with prosopagnosia cope and improve their face recognition abilities.

Retinal degeneration is a broad term that refers to the progressive loss of photoreceptor cells (rods and cones) in the retina, which are responsible for converting light into electrical signals that are sent to the brain. This process can lead to vision loss or blindness. There are many different types of retinal degeneration, including age-related macular degeneration, retinitis pigmentosa, and Stargardt's disease, among others. These conditions can have varying causes, such as genetic mutations, environmental factors, or a combination of both. Treatment options vary depending on the specific type and progression of the condition.

Macular degeneration, also known as age-related macular degeneration (AMD), is a medical condition that affects the central part of the retina, called the macula. The macula is responsible for sharp, detailed vision, which is necessary for activities such as reading, driving, and recognizing faces.

In AMD, there is a breakdown or deterioration of the macula, leading to gradual loss of central vision. There are two main types of AMD: dry (atrophic) and wet (exudative). Dry AMD is more common and progresses more slowly, while wet AMD is less common but can cause rapid and severe vision loss if left untreated.

The exact causes of AMD are not fully understood, but risk factors include age, smoking, family history, high blood pressure, obesity, and exposure to sunlight. While there is no cure for AMD, treatments such as vitamin supplements, laser therapy, and medication injections can help slow its progression and reduce the risk of vision loss.

Sclerosis is a medical term that refers to the abnormal hardening or scarring of body tissues, particularly in the context of various degenerative diseases affecting the nervous system. The term "sclerosis" comes from the Greek word "skleros," which means hard. In these conditions, the normally flexible and adaptable nerve cells or their protective coverings (myelin sheath) become rigid and inflexible due to the buildup of scar tissue or abnormal protein deposits.

There are several types of sclerosis, but one of the most well-known is multiple sclerosis (MS). In MS, the immune system mistakenly attacks the myelin sheath surrounding nerve fibers in the brain and spinal cord, leading to scarring and damage that disrupts communication between the brain and the rest of the body. This results in a wide range of symptoms, such as muscle weakness, numbness, vision problems, balance issues, and cognitive impairment.

Other conditions that involve sclerosis include:

1. Amyotrophic lateral sclerosis (ALS): Also known as Lou Gehrig's disease, ALS is a progressive neurodegenerative disorder affecting motor neurons in the brain and spinal cord, leading to muscle weakness, stiffness, and atrophy.
2. Systemic sclerosis: A rare autoimmune connective tissue disorder characterized by thickening and hardening of the skin and internal organs due to excessive collagen deposition.
3. Plaque psoriasis: A chronic inflammatory skin condition marked by red, scaly patches (plaques) resulting from rapid turnover and accumulation of skin cells.
4. Adhesive capsulitis: Also known as frozen shoulder, this condition involves stiffening and thickening of the shoulder joint's capsule due to scarring or inflammation, leading to limited mobility and pain.

Computer-assisted image processing is a medical term that refers to the use of computer systems and specialized software to improve, analyze, and interpret medical images obtained through various imaging techniques such as X-ray, CT (computed tomography), MRI (magnetic resonance imaging), ultrasound, and others.

The process typically involves several steps, including image acquisition, enhancement, segmentation, restoration, and analysis. Image processing algorithms can be used to enhance the quality of medical images by adjusting contrast, brightness, and sharpness, as well as removing noise and artifacts that may interfere with accurate diagnosis. Segmentation techniques can be used to isolate specific regions or structures of interest within an image, allowing for more detailed analysis.

Computer-assisted image processing has numerous applications in medical imaging, including detection and characterization of lesions, tumors, and other abnormalities; assessment of organ function and morphology; and guidance of interventional procedures such as biopsies and surgeries. By automating and standardizing image analysis tasks, computer-assisted image processing can help to improve diagnostic accuracy, efficiency, and consistency, while reducing the potential for human error.

The Medical Definition of 'Mental Status Schedule' is:

A standardized interview and examination tool used by mental health professionals to assess an individual's cognitive, behavioral, and emotional status. The schedule typically covers areas such as orientation, attention, memory, language, visuospatial abilities, executive functions, and mood and affect. It is often used in research, clinical settings, and epidemiological studies to evaluate psychiatric and neurological conditions, as well as the effects of treatments or interventions. The specific version of the Mental Status Schedule may vary, but it generally includes a structured format with clear questions and response options to ensure standardization and reliability in the assessment process.

Neuroimaging is a medical term that refers to the use of various techniques to either directly or indirectly image the structure, function, or pharmacology of the nervous system. It includes techniques such as computed tomography (CT), magnetic resonance imaging (MRI), functional MRI (fMRI), positron emission tomography (PET), single-photon emission computed tomography (SPECT), and diffusion tensor imaging (DTI). These techniques are used to diagnose and monitor various neurological and psychiatric conditions, as well as to understand the underlying mechanisms of brain function in health and disease.

Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.

A language test is not a medical term per se, but it is commonly used in the field of speech-language pathology, which is a medical discipline. A language test, in this context, refers to an assessment tool used by speech-language pathologists to evaluate an individual's language abilities. These tests typically measure various aspects of language, including vocabulary, grammar, syntax, semantics, and pragmatics.

Language tests can be standardized or non-standardized and may be administered individually or in a group setting. The results of these tests help speech-language pathologists diagnose language disorders, develop treatment plans, and monitor progress over time. It is important to note that language testing should be conducted by a qualified professional who has experience in administering and interpreting language assessments.

Lewy body disease, also known as dementia with Lewy bodies, is a type of progressive degenerative dementia that affects thinking, behavior, and movement. It's named after Dr. Friedrich Lewy, the scientist who discovered the abnormal protein deposits, called Lewy bodies, that are characteristic of this disease.

Lewy bodies are made up of a protein called alpha-synuclein and are found in the brain cells of individuals with Lewy body disease. These abnormal protein deposits are also found in people with Parkinson's disease, but they are more widespread in Lewy body disease, affecting multiple areas of the brain.

The symptoms of Lewy body disease can vary from person to person, but they often include:

* Cognitive decline, such as memory loss, confusion, and difficulty with problem-solving
* Visual hallucinations and delusions
* Parkinsonian symptoms, such as stiffness, tremors, and difficulty walking or moving
* Fluctuations in alertness and attention
* REM sleep behavior disorder, where a person acts out their dreams during sleep

Lewy body disease is a progressive condition, which means that the symptoms get worse over time. Currently, there is no cure for Lewy body disease, but medications can help manage some of the symptoms.

Cognitive disorders are a category of mental health disorders that primarily affect cognitive abilities including learning, memory, perception, and problem-solving. These disorders can be caused by various factors such as brain injury, degenerative diseases, infection, substance abuse, or developmental disabilities. Examples of cognitive disorders include dementia, amnesia, delirium, and intellectual disability. It's important to note that the specific definition and diagnostic criteria for cognitive disorders may vary depending on the medical source or classification system being used.

The cerebral cortex is the outermost layer of the brain, characterized by its intricate folded structure and wrinkled appearance. It is a region of great importance as it plays a key role in higher cognitive functions such as perception, consciousness, thought, memory, language, and attention. The cerebral cortex is divided into two hemispheres, each containing four lobes: the frontal, parietal, temporal, and occipital lobes. These areas are responsible for different functions, with some regions specializing in sensory processing while others are involved in motor control or associative functions. The cerebral cortex is composed of gray matter, which contains neuronal cell bodies, and is covered by a layer of white matter that consists mainly of myelinated nerve fibers.

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:

1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).

2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.

3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.

4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.

5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.

6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.

7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Wallerian degeneration is a process that occurs following damage to the axons of neurons (nerve cells). After an axon is severed or traumatically injured, it undergoes a series of changes including fragmentation and removal of the distal segment of the axon, which is the part that is separated from the cell body. This process is named after Augustus Waller, who first described it in 1850.

The degenerative changes in the distal axon are characterized by the breakdown of the axonal cytoskeleton, the loss of myelin sheath (the fatty insulating material that surrounds and protects the axon), and the infiltration of macrophages to clear away the debris. These events lead to the degeneration of the distal axon segment, which is necessary for successful regeneration of the injured nerve.

Wallerian degeneration is a crucial process in the nervous system's response to injury, as it enables the regrowth of axons and the reestablishment of connections between neurons. However, if the regenerative capacity of the neuron is insufficient or the environment is not conducive to growth, functional recovery may be impaired, leading to long-term neurological deficits.

The hippocampus is a complex, curved formation in the brain that resembles a seahorse (hence its name, from the Greek word "hippos" meaning horse and "kampos" meaning sea monster). It's part of the limbic system and plays crucial roles in the formation of memories, particularly long-term ones.

This region is involved in spatial navigation and cognitive maps, allowing us to recognize locations and remember how to get to them. Additionally, it's one of the first areas affected by Alzheimer's disease, which often results in memory loss as an early symptom.

Anatomically, it consists of two main parts: the Ammon's horn (or cornu ammonis) and the dentate gyrus. These structures are made up of distinct types of neurons that contribute to different aspects of learning and memory.

Motor neurons are specialized nerve cells in the brain and spinal cord that play a crucial role in controlling voluntary muscle movements. They transmit electrical signals from the brain to the muscles, enabling us to perform actions such as walking, talking, and swallowing. There are two types of motor neurons: upper motor neurons, which originate in the brain's motor cortex and travel down to the brainstem and spinal cord; and lower motor neurons, which extend from the brainstem and spinal cord to the muscles. Damage or degeneration of these motor neurons can lead to various neurological disorders, such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).

Brain mapping is a broad term that refers to the techniques used to understand the structure and function of the brain. It involves creating maps of the various cognitive, emotional, and behavioral processes in the brain by correlating these processes with physical locations or activities within the nervous system. Brain mapping can be accomplished through a variety of methods, including functional magnetic resonance imaging (fMRI), positron emission tomography (PET) scans, electroencephalography (EEG), and others. These techniques allow researchers to observe which areas of the brain are active during different tasks or thoughts, helping to shed light on how the brain processes information and contributes to our experiences and behaviors. Brain mapping is an important area of research in neuroscience, with potential applications in the diagnosis and treatment of neurological and psychiatric disorders.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The spinal cord is a major part of the nervous system, extending from the brainstem and continuing down to the lower back. It is a slender, tubular bundle of nerve fibers (axons) and support cells (glial cells) that carries signals between the brain and the rest of the body. The spinal cord primarily serves as a conduit for motor information, which travels from the brain to the muscles, and sensory information, which travels from the body to the brain. It also contains neurons that can independently process and respond to information within the spinal cord without direct input from the brain.

The spinal cord is protected by the bony vertebral column (spine) and is divided into 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal. Each segment corresponds to a specific region of the body and gives rise to pairs of spinal nerves that exit through the intervertebral foramina at each level.

The spinal cord is responsible for several vital functions, including:

1. Reflexes: Simple reflex actions, such as the withdrawal reflex when touching a hot surface, are mediated by the spinal cord without involving the brain.
2. Muscle control: The spinal cord carries motor signals from the brain to the muscles, enabling voluntary movement and muscle tone regulation.
3. Sensory perception: The spinal cord transmits sensory information, such as touch, temperature, pain, and vibration, from the body to the brain for processing and awareness.
4. Autonomic functions: The sympathetic and parasympathetic divisions of the autonomic nervous system originate in the thoracolumbar and sacral regions of the spinal cord, respectively, controlling involuntary physiological responses like heart rate, blood pressure, digestion, and respiration.

Damage to the spinal cord can result in various degrees of paralysis or loss of sensation below the level of injury, depending on the severity and location of the damage.

HEK293 cells, also known as human embryonic kidney 293 cells, are a line of cells used in scientific research. They were originally derived from human embryonic kidney cells and have been adapted to grow in a lab setting. HEK293 cells are widely used in molecular biology and biochemistry because they can be easily transfected (a process by which DNA is introduced into cells) and highly express foreign genes. As a result, they are often used to produce proteins for structural and functional studies. It's important to note that while HEK293 cells are derived from human tissue, they have been grown in the lab for many generations and do not retain the characteristics of the original embryonic kidney cells.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.

Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.

Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Cytoplasm is the material within a eukaryotic cell (a cell with a true nucleus) that lies between the nuclear membrane and the cell membrane. It is composed of an aqueous solution called cytosol, in which various organelles such as mitochondria, ribosomes, endoplasmic reticulum, Golgi apparatus, lysosomes, and vacuoles are suspended. Cytoplasm also contains a variety of dissolved nutrients, metabolites, ions, and enzymes that are involved in various cellular processes such as metabolism, signaling, and transport. It is where most of the cell's metabolic activities take place, and it plays a crucial role in maintaining the structure and function of the cell.

Frontotemporal lobar degeneration (FTLD) is a pathological process that occurs in frontotemporal dementia. It is characterized ... The three clinical subtypes of frontotemporal lobar degeneration, frontotemporal dementia, semantic dementia and progressive ... Consortium for Frontotemporal Lobar Degeneration (2007). "Neuropathologic diagnostic and nosologic criteria for frontotemporal ... lobar degeneration: Consensus of the Consortium for Frontotemporal Lobar Degeneration". Acta Neuropathologica. 114 (1): 5-22. ...
... also termed frontotemporal lobar degeneration). Cases of elderly patients with progressive language deterioration have been ... disease in focal areas of the cerebral cortex is the hallmark of the family of diseases referred to as frontotemporal dementia ... Frontotemporal Dementia and Frontotemporal Lobar Degeneration * Sections Frontotemporal Dementia and Frontotemporal Lobar ... Frontotemporal Dementia and Frontotemporal Lobar Degeneration) and Frontotemporal Dementia and Frontotemporal Lobar ...
... related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement. ... medlineplus.gov/genetics/condition/grn-related-frontotemporal-lobar-degeneration/ GRN-related frontotemporal lobar degeneration ... GRN-related frontotemporal lobar degeneration results from mutations (pathogenic variants) in the GRN gene. This gene provides ... GRN-related frontotemporal lobar degeneration has a pattern of inheritance known as incomplete autosomal dominance. This means ...
... and other forms of dementia such as frontotemporal lobar degeneration (FTLD). Autopsy studies have shown that certain ... Hippocampal shape analysis in Alzheimers disease and frontotemporal lobar degeneration subtypes J Alzheimers Dis. 2012;30(2): ... and other forms of dementia such as frontotemporal lobar degeneration (FTLD). Autopsy studies have shown that certain ... The subjects included 19 AD and 35 FTLD patients [13 frontotemporal dementia (FTD), 13 semantic dementia (SD), and 9 ...
... also termed frontotemporal lobar degeneration). Cases of elderly patients with progressive language deterioration have been ... disease in focal areas of the cerebral cortex is the hallmark of the family of diseases referred to as frontotemporal dementia ... Frontotemporal Dementia and Frontotemporal Lobar Degeneration * Sections Frontotemporal Dementia and Frontotemporal Lobar ... Frontotemporal Dementia and Frontotemporal Lobar Degeneration) and Frontotemporal Dementia and Frontotemporal Lobar ...
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-54. ... Odour identification in frontotemporal lobar degeneration. J Neurol 2007;254:431-5. ... Structural neuroanatomy of face processing in frontotemporal lobar degeneration. J Neurol Neurosurg Psychiatry 2011;82:1341-3. ... VBM signatures of abnormal eating behaviours in frontotemporal lobar degeneration. Neuroimage 2007;35:207-13. ...
... rigorous method to account for staining batch effects in a large sample of brain tissue with frontotemporal lobar degeneration ... a statistically rigorous method to account for staining batch effects in a large sample of brain tissue with frontotemporal ... lobar degeneration with tau inclusions (FTLD-Tau, N=39) or TDP-43 inclusions (FTLD-TDP, N=53). We analyzed the relationship ... FTLD-Tau, frontotemporal lobar degeneration with inclusions of the tau protein; FTLD-TDP, frontotemporal lobar degeneration ...
Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of ... Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of ... in cerebellar Purkinje cells of the cerebellum in patients with behavioural variant frontotemporal dementia (bvFTD) with ...
Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration. ... identifies asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)-causing mutations at risk of disease ...
Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). ... Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) ... The project focuses on C9orf72, the most frequent genetic form of frontotemporal lobar degeneration (FTLD) and amyotrophic ... Home » Database » Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) ...
... and frontotemporal lobar degeneration with TDP-43 positive ubiquitinated inclusions, recently relabelled the TDP-43 ... nuclear transport may play a mechanistic role in the pathogenesis of the TDP-43 positive frontotemporal lobar degeneration. ... chosen nuclear import factors in post-mortem brain samples from patients with TDP-43 positive frontotemporal lobar degeneration ... a considerable reduction in expression of cellular apoptosis susceptibility protein in frontotemporal lobar degeneration. We ...
frontotemporal dementia; FTLD=. frontotemporal lobar degeneration; GMM=. Gaussian Mixture Models; HCs=. healthy controls; MMSE= ... In this observational study, we investigated ChP volume in a large cohort of patients with frontotemporal lobar degeneration ( ... and Disease Severity in Patients With Frontotemporal Lobar Degeneration Spectrum. View ORCID ProfileMartina Assogna, Enrico ... and Disease Severity in Patients With Frontotemporal Lobar Degeneration Spectrum. Martina Assogna, Enrico Premi, Stefano ...
... RUBINO, Elisa;RAINERO, Innocenzo;CHIO ... OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and ... OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and ...
... Canu, Elisa; ... Resting state functional brain networks associated with emotion processing in frontotemporal lobar degeneration / E. Canu, D. ... of the brain networks in frontotemporal lobar degeneration (FTLD). Eighty FTLD patients (including cases with behavioral ... of the brain networks in frontotemporal lobar degeneration (FTLD). Eighty FTLD patients (including cases with behavioral ...
The Genetics of Frontotemporal Lobar Degeneration There is a growing awareness that dementia may be related to a variety of ... Frontotemporal lobar degeneration: current perspectives. Neuropsychiatric Disease and Treatment; 10:297-310.,* Mutations in ... This group of disorders is often referred to as frontotemporal lobar degeneration (FTLD). ... Frontotemporal dementia (FTD), semantic dementia (SD), and progressive nonfluent aphasia (PNFA) are all due to the progressive ...
... Observational Study. Get in touch about this study What is the study ... This is a 5-year study which aims to evaluate and characterize frontotemporal lobar degeneration (FTLD) patients and ... Corticobasal Syndrome (CBS), Family history of Frontotemporal dementia (FTD), Frontotemporal dementia (FTD), Primary ...
The Ontario Neurodegenerative Disease Research Initiative (ONDRI) has released baseline data from its foundational research study of people living with neurodegenerative disease and their care…. ...
... and frontotemporal lobar degeneration. Trust Cura4U for accurate and timely results. ... Frontotemporal Lobar Degeneration Panel. Test Name Amyotrophic Lateral Sclerosis / Frontotemporal Lobar Degeneration Panel ...
... Start: March 1, 2020. End: July 2024 ... This research effort combines two studies - Advancing Research and Treatment in Frontotemporal Lobar Degeneration (ARTFL) and ... HomeARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) Research Consortium. ... into a single North American research consortium to study frontotemporal lobar degeneration (FTLD). The goal of the ARTFL ...
Clinical syndromes caused by frontotemporal lobar degeneration (FTLD), including the behavioral variant frontotemporal dementia ... Investigating the link between GABA deficits and frontotemporal lobar degeneration. June 14, 2021. ... GABAergic cortical network physiology in frontotemporal lobar degeneration. BRAIN. Online ahead of print. https://doi.org/ ... Researchers identified deficits in frontotemporal processing via conductance-based biophysical models of local and global ...
Genetic study on frontotemporal lobar degeneration in India. G DAS, T SADHUKHAN, D SADHUKHAN, A BISWAS, A GHOSH, K RAY, J RAY ...
This Frontotemporal Lobar Degeneration and Progressive Supranuclear Palsy study at UCSF is now recruiting people ages 18 years ... ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) a study on Frontotemporal Lobar Degeneration Progressive ... Frontotemporal Lobar Degeneration (FTLD), Progressive Supranuclear Palsy (PSP), Corticobasal Degeneration (CBD), Behavioral ... ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) represents the formalized integration of ARTFL (U54 ...
ALLFTD Study for Frontotemporal Lobar Degeneration. Learn More APT Webstudy. Learn More ...
Frontotemporal Lobar Degeneration (FTLD) is a fatal neurodegenerative disorder for which no cure is available. Although it is a ... Common pathobiochemical hallmarks of progranulin‑associated frontotemporal lobar degeneration and neuronal ceroid ...
However, the role of microglia in TDP-43-mediated motor neuron degeneration remains poorly understood. In this study, we show ... Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133. ... positive inclusions in most ALS patients and also in other neurodegenerative diseases such as frontotemporal lobar degeneration ... However, the role of microglia in TDP-43-mediated motor neuron degeneration remains poorly understood. In this study, we show ...
keywords = "Frontotemporal dementia, Frontotemporal lobar degeneration, Neuronal intranuclear inclusions, Progranulin, ... The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain. 2006 Nov;129(11): ... The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. In: Brain. 2006 ; Vol. 129 ... The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. / Mackenzie, Ian R.A.; ...
Sporadic Frontotemporal Lobar Degeneration. The most well-known risk factor for late-onset AD, Apo E4, has also been considered ... Frontotemporal lobar degeneration (FTLD) occurs most often in the pre-senile period, and age at onset is typically 45-65 years ... Familial Frontotemporal Lobar Degeneration. FTLD is a heterogeneous disease characterised by a strong genetic component in its ... Alzheimers disease (AD) is the most common cause of dementia in the elderly, whereas frontotemporal lobar degeneration (FTLD) ...

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