A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
A subcategory of protein tyrosine phosphatases that occur in the CYTOPLASM. Many of the proteins in this category play a role in intracellular signal transduction.
A sub-class of protein tyrosine phosphatases that contain an additional phosphatase activity which cleaves phosphate ester bonds on SERINE or THREONINE residues that are located on the same protein.
Glycogen is a multibranched polysaccharide of glucose serving as the primary form of energy storage in animals, fungi, and bacteria, stored mainly in liver and muscle tissues. (Two sentences combined as per your request)
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
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)
Polysaccharides composed of repeating glucose units. They can consist of branched or unbranched chains in any linkages.
An enzyme that catalyzes the transfer of D-glucose from UDPglucose into 1,4-alpha-D-glucosyl chains. EC 2.4.1.11.
Transport proteins that carry specific substances in the blood or across cell membranes.
An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.
The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Solid dosage forms, of varying weight, size, and shape, which may be molded or compressed, and which contain a medicinal substance in pure or diluted form. (Dorland, 28th ed)
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Printed publications usually having a format with no binding and no cover and having fewer than some set number of pages. They are often devoted to a single subject.
A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. (1/65)

The progressive myoclonus epilepsy of Lafora type is an autosomal recessive disorder caused by mutations in the EPM2A gene. EPM2A is predicted to encode a putative tyrosine phosphatase protein, named laforin, whose full sequence has not yet been reported. In order to understand the function of the EPM2A gene, we isolated a full-length cDNA, raised an antibody and characterized its protein product. The full-length clone predicts a 38 kDa laforin that was very close to the size detected in transfected cells. Recombinant laforin was able to hydrolyze phosphotyrosine as well as phosphoserine/threonine substrates, demonstrating that laforin is an active dual-specificity phosphatase. Biochemical, immunofluorescence and electron microscopic studies on the full-length laforin expressed in HeLa cells revealed that laforin is a cytoplasmic protein associated with polyribosomes, possibly through a conformation-dependent protein-protein interaction. We analyzed the intracellular targeting of two laforin mutants with missense mutations. Expression of both mutants resulted in ubiquitin-positive perinuclear aggregates suggesting that they were misfolded proteins targeted for degradation. Our results suggest that laforin is involved in translational regulation and that protein misfolding may be one of the molecular bases of the Lafora disease phenotype caused by missense mutations in the EPM2A gene.  (+info)

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (2/65)

Progressive myoclonus epilepsy of the Lafora type (Lafora disease) is an autosomal recessive disease characterised by epilepsy, myoclonus, progressive neurological deterioration and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). We recently cloned the major gene for Lafora disease (EPM2A) and characterised the corresponding product, a putative protein tyrosine phosphatase (LAFPTPase). Here we report the complete coding sequence of the EPM2A gene and the analysis of this gene in 68 Lafora disease chromosomes. We describe 11 novel mutations: three missense (F84L, G240S and P301L), one nonsense (Y86stop), three < 40 bp microdeletions (K90fs, Ex1-32bpdel, Ex1-33bpdel), and two deletions affecting the entire exon 1 (Ex1-del1 and Ex1-del2). In addition, we have identified three patients with a null allele in non-exonic microsatellites EPM2A-3 or EPM2A-4, suggesting the presence of two distinct > 3 kb deletions affecting exon 2 (Ex2-del1 and Ex2-del2). Considering these mutations, a total of 25 mutations, 60% of them generating truncations, have been described thus far in the EPM2A gene. In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients. We also report the characterisation of five new microsatellite markers and one SNP in the EPM2A gene and describe the haplotypic associations of alleles at these sites in normal and EPM2A chromosomes. This analysis suggests that both founder effect and recurrence have contributed to the relatively high prevalence of R241stop mutation in Spain. The data reported here represent the first systematic analysis of the mutational events in the EPM2A gene in Lafora disease patients and provide insight into the origin and evolution of the different EPM2A alleles.  (+info)

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. (3/65)

Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting from defects in the EPM2A gene. EPM2A encodes a 331-amino acid protein containing a carboxyl-terminal phosphatase catalytic domain. We demonstrate that the EPM2A gene product also contains an amino-terminal carbohydrate binding domain (CBD) and that the CBD is critical for association with glycogen both in vitro and in vivo. The CBD domain localizes the phosphatase to specific subcellular compartments that correspond to the expression pattern of glycogen processing enzyme, glycogen synthase. Mutations in the CBD result in mis-localization of the phosphatase and thereby suggest that the CBD targets laforin to intracellular glycogen particles where it is likely to function. Thus naturally occurring mutations within the CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatase expression.  (+info)

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. (4/65)

Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause Lafora disease (LD), a progressive and invariably fatal epilepsy with periodic acid-Schiff-positive (PAS+) cytoplasmic inclusions (Lafora bodies) in the central nervous system. To study the pathology of LD and the functions of laforin, we disrupted the Epm2a gene in mice. At two months of age, homozygous null mutants developed widespread degeneration of neurons, most of which occurred in the absence of Lafora bodies. Dying neurons characteristically exhibit swelling in the endoplasmic reticulum, Golgi networks and mitochondria in the absence of apoptotic bodies or fragmentation of DNA. As Lafora bodies become more prominent at 4-12 months, organelles and nuclei are disrupted. The Lafora bodies, present both in neuronal and non-neural tissues, are positive for ubiquitin and advanced glycation end-products only in neurons, suggesting different pathological consequence for Lafora inclusions in neuronal tissues. Neuronal degeneration and Lafora inclusion bodies predate the onset of impaired behavioral responses, ataxia, spontaneous myoclonic seizures and EEG epileptiform activity. Our results suggest that LD is a primary neurodegenerative disorder that may utilize a non-apoptotic mechanism of cell death.  (+info)

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. (5/65)

Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause an autosomal recessive fatal disorder called Lafora's disease (LD) classically described as an adolescent-onset stimulus-sensitive myoclonus, epilepsy and neurologic deterioration. Here we related mutations in EPM2A with phenotypes of 22 patients (14 families) and identified two subsyndromes: (i) classical LD with adolescent-onset stimulus-sensitive grand mal, absence and myoclonic seizures followed by dementia and neurologic deterioration, and associated mainly with mutations in exon 4 (P = 0.0007); (ii) atypical LD with childhood-onset dyslexia and learning disorder followed by epilepsy and neurologic deterioration, and associated mainly with mutations in exon 1 (P = 0.0015). To understand the two subsyndromes better, we investigated the effect of five missense mutations in the carbohydrate-binding domain (CBD-4; coded by exon 1) and three missense mutations in the dual phosphatase domain (DSPD; coded by exons 3 and 4) on laforin's intracellular localization in HeLa cells. Expression of three mutant proteins (T194I, G279S and Y294N) in DSPD formed ubiquitin-positive cytoplasmic aggregates, suggesting that they were folding mutants set for degradation. In contrast, none of the three CBD-4 mutants showed cytoplasmic clumping. However, CBD-4 mutants W32G and R108C targeted both cytoplasm and nucleus, suggesting that laforin had diminished its usual affinity for polysomes. Our data, thus, represent the first report of a novel childhood syndrome for LD. Our results also provide clues for distinct roles for the CBD-4 and DSP domains of laforin in the etiology of two subsyndromes of LD.  (+info)

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (6/65)

Lafora disease is an autosomal recessive type of progressive myoclonus epilepsy caused by mutations in the EPM2A gene. The EPM2A gene-encoded protein laforin is a dual-specificity phosphatase that associates with polyribosomes. Because the cellular functions of laforin are largely unknown, we used the yeast-two hybrid system to screen for protein(s) that interact with laforin. We found that laforin interacts with a phylogenetically conserved protein HIRIP5 that harbors a NifU-like domain. Both in vitro and in vivo assay have shown that the interaction is specific and that laforin probably uses its N-terminal CBD-4 domain to interact with the C-terminal NifU-like domain of the HIRIP5 protein. HIRIP5 encodes a cytosolic protein and is expressed ubiquitously, perhaps reflecting a house-keeping function. The presence of a NifU-like domain in the HIRIP5 protein raises an interesting possibility that it may be involved in iron homeostasis. Although the significance of the interaction between HIRIP5 and laforin proteins is not yet fully known, because laforin dephosphorylated HIRIP5 in vitro, HIRIP5 promises to be an interesting laforin-binding partner and would contribute to the understanding of the molecular pathology of Lafora disease.  (+info)

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. (7/65)

BACKGROUND: Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood. METHODS: One Lafora disease gene, EPM2A, has been identified on chromosome 6q24. Locus heterogeneity led us to search for a second gene using a genome wide linkage scan in French-Canadian families. RESULTS: We mapped a second Lafora disease locus, EPM2B, to a 2.2 Mb region at 6p22, a region known to code for several proteins, including kinesins. Kinesins are microtubule dependent motor proteins that are involved in transporting cellular components. In neurones, they play a major role in axonal and dendritic transport. CONCLUSION: Analysis of the present locus in other non-EPM2A families will reveal whether there is further locus heterogeneity. Identification of the disease gene will be of major importance towards our understanding of the pathogenesis of Lafora disease.  (+info)

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. (8/65)

Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called Lafora bodies. Lafora bodies resemble glycogen with reduced branching, suggesting an alteration in glycogen metabolism. Linkage analysis and homozygosity mapping localized EPM2A, a major gene for LD, to chromosome 6q24. EPM2A encodes a protein of 331 amino acids (named laforin) with two domains, a dual-specificity phosphatase domain and a carbohydrate binding domain. Here we show that, in addition, laforin interacts with itself and with the glycogen targeting regulatory subunit R5 of protein phosphatase 1 (PP1). R5 is the human homolog of the murine Protein Targeting to Glycogen, a protein that also acts as a molecular scaffold assembling PP1 with its substrate, glycogen synthase, at the intracellular glycogen particles. The laforin-R5 interaction was confirmed by pull-down and co-localization experiments. Full-length laforin is required for the interaction. However, a minimal central region of R5 (amino acids 116-238), including the binding sites for glycogen and for glycogen synthase, is sufficient to interact with laforin. Point-mutagenesis of the glycogen synthase-binding site completely blocked the interaction with laforin. The majority of the EPM2A missense mutations found in LD patients result in lack of phosphatase activity, absence of binding to glycogen and lack of interaction with R5. Interestingly, we have found that the LD-associated EPM2A missense mutation G240S has no effect on the phosphatase or glycogen binding activities of laforin but disrupts the interaction with R5, suggesting that binding to R5 is critical for the laforin function. These results place laforin in the context of a multiprotein complex associated with intracellular glycogen particles, reinforcing the concept that laforin is involved in the regulation of glycogen metabolism.  (+info)

Lafora Disease is a rare, inherited, progressive myoclonus epilepsy (PME) disorder. It is characterized by the accumulation of abnormal glycogen particles called Lafora Bodies in nerve cells (neurons) throughout the body, most prominently in the brain and muscle tissue.

The disease typically begins in late childhood or early adolescence with symptoms such as:
- Seizures (myoclonic jerks, tonic-clonic seizures, absence seizures)
- Visual hallucinations
- Dementia
- Speech difficulties
- Muscle stiffness and rigidity
- Difficulty walking and coordinating movements

Lafora Disease is caused by mutations in either the EPM2A or NHLRC1 gene, which play a role in regulating glycogen metabolism. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

There is currently no cure for Lafora Disease and treatment is focused on managing symptoms with anti-epileptic drugs and supportive care. The prognosis for individuals with Lafora Disease is poor, with most individuals not surviving beyond their mid-20s.

Protein Tyrosine Phosphatases, Non-Receptor (PTPNs) are a type of enzymes that play a crucial role in the regulation of various cellular processes by removing phosphate groups from tyrosine residues of proteins. Unlike receptor protein tyrosine phosphatases, PTPNs do not have a transmembrane domain and are located in the cytoplasm. They are involved in several signaling pathways that control cell growth, differentiation, migration, and survival. Dysregulation of PTPN function has been implicated in various diseases, including cancer, diabetes, and neurological disorders.

Dual-specificity phosphatases (DUSPs) are a group of enzymes that regulate various cellular processes by removing phosphate groups from specific proteins. They are called "dual-specificity" because they can remove phosphates from both tyrosine and serine/threonine residues on their target proteins, whereas most other protein phosphatases can only remove phosphates from one or the other.

DUSPs play important roles in regulating signal transduction pathways that are involved in various cellular functions such as proliferation, differentiation, survival, and apoptosis. They act as negative regulators of these pathways by dephosphorylating and inactivating key signaling molecules, including mitogen-activated protein kinases (MAPKs) and extracellular signal-regulated kinases (ERKs).

There are several subfamilies of DUSPs, each with distinct substrate specificities and cellular localizations. Some DUSPs are primarily cytoplasmic, while others are nuclear or associated with the plasma membrane. Dysregulation of DUSP activity has been implicated in various diseases, including cancer, diabetes, and neurodegenerative disorders. Therefore, understanding the function and regulation of DUSPs is important for developing new therapeutic strategies for these diseases.

Glycogen is a complex carbohydrate that serves as the primary form of energy storage in animals, fungi, and bacteria. It is a polysaccharide consisting of long, branched chains of glucose molecules linked together by glycosidic bonds. Glycogen is stored primarily in the liver and muscles, where it can be quickly broken down to release glucose into the bloodstream during periods of fasting or increased metabolic demand.

In the liver, glycogen plays a crucial role in maintaining blood glucose levels by releasing glucose when needed, such as between meals or during exercise. In muscles, glycogen serves as an immediate energy source for muscle contractions during intense physical activity. The ability to store and mobilize glycogen is essential for the proper functioning of various physiological processes, including athletic performance, glucose homeostasis, and overall metabolic health.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

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.

Glucans are polysaccharides (complex carbohydrates) that are made up of long chains of glucose molecules. They can be found in the cell walls of certain plants, fungi, and bacteria. In medicine, beta-glucans derived from yeast or mushrooms have been studied for their potential immune-enhancing effects. However, more research is needed to fully understand their role and effectiveness in human health.

Glycogen synthase is an enzyme (EC 2.4.1.11) that plays a crucial role in the synthesis of glycogen, a polysaccharide that serves as the primary storage form of glucose in animals, fungi, and bacteria. This enzyme catalyzes the transfer of glucosyl residues from uridine diphosphate glucose (UDP-glucose) to the non-reducing end of an growing glycogen chain, thereby elongating it.

Glycogen synthase is regulated by several mechanisms, including allosteric regulation and covalent modification. The activity of this enzyme is inhibited by high levels of intracellular glucose-6-phosphate (G6P) and activated by the binding of glycogen or proteins that bind to glycogen, such as glycogenin. Phosphorylation of glycogen synthase by protein kinases, like glycogen synthase kinase-3 (GSK3), also reduces its activity, while dephosphorylation by protein phosphatases enhances it.

The regulation of glycogen synthase is critical for maintaining glucose homeostasis and energy balance in the body. Dysregulation of this enzyme has been implicated in several metabolic disorders, including type 2 diabetes and non-alcoholic fatty liver disease (NAFLD).

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Protein Tyrosine Phosphatases (PTPs) are a group of enzymes that play a crucial role in the regulation of various cellular processes, including cell growth, differentiation, and signal transduction. PTPs function by removing phosphate groups from tyrosine residues on proteins, thereby counteracting the effects of tyrosine kinases, which add phosphate groups to tyrosine residues to activate proteins.

PTPs are classified into several subfamilies based on their structure and function, including classical PTPs, dual-specificity PTPs (DSPs), and low molecular weight PTPs (LMW-PTPs). Each subfamily has distinct substrate specificities and regulatory mechanisms.

Classical PTPs are further divided into receptor-like PTPs (RPTPs) and non-receptor PTPs (NRPTPs). RPTPs contain a transmembrane domain and extracellular regions that mediate cell-cell interactions, while NRPTPs are soluble enzymes located in the cytoplasm.

DSPs can dephosphorylate both tyrosine and serine/threonine residues on proteins and play a critical role in regulating various signaling pathways, including the mitogen-activated protein kinase (MAPK) pathway.

LMW-PTPs are a group of small molecular weight PTPs that localize to different cellular compartments, such as the endoplasmic reticulum and mitochondria, and regulate various cellular processes, including protein folding and apoptosis.

Overall, PTPs play a critical role in maintaining the balance of phosphorylation and dephosphorylation events in cells, and dysregulation of PTP activity has been implicated in various diseases, including cancer, diabetes, and neurological disorders.

Sleep deprivation is a condition that occurs when an individual fails to get sufficient quality sleep or the recommended amount of sleep, typically 7-9 hours for adults. This can lead to various physical and mental health issues. It can be acute, lasting for one night or a few days, or chronic, persisting over a longer period.

The consequences of sleep deprivation include:

1. Fatigue and lack of energy
2. Difficulty concentrating or remembering things
3. Mood changes, such as irritability or depression
4. Weakened immune system
5. Increased appetite and potential weight gain
6. Higher risk of accidents due to decreased reaction time
7. Health problems like high blood pressure, diabetes, and heart disease over time

Sleep deprivation can be caused by various factors, including stress, shift work, sleep disorders like insomnia or sleep apnea, poor sleep hygiene, and certain medications. It's essential to address the underlying causes of sleep deprivation to ensure proper rest and overall well-being.

A seizure is an uncontrolled, abnormal firing of neurons (brain cells) that can cause various symptoms such as convulsions, loss of consciousness, altered awareness, or changes in behavior. Seizures can be caused by a variety of factors including epilepsy, brain injury, infection, toxic substances, or genetic disorders. They can also occur without any identifiable cause, known as idiopathic seizures. Seizures are a medical emergency and require immediate attention.

In the context of medical terminology, tablets refer to pharmaceutical dosage forms that contain various active ingredients. They are often manufactured in a solid, compressed form and can be administered orally. Tablets may come in different shapes, sizes, colors, and flavors, depending on their intended use and the manufacturer's specifications.

Some tablets are designed to disintegrate or dissolve quickly in the mouth, making them easier to swallow, while others are formulated to release their active ingredients slowly over time, allowing for extended drug delivery. These types of tablets are known as sustained-release or controlled-release tablets.

Tablets may contain a single active ingredient or a combination of several ingredients, depending on the intended therapeutic effect. They are typically manufactured using a variety of excipients, such as binders, fillers, and disintegrants, which help to hold the tablet together and ensure that it breaks down properly when ingested.

Overall, tablets are a convenient and widely used dosage form for administering medications, offering patients an easy-to-use and often palatable option for receiving their prescribed treatments.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Absence epilepsy is a type of epilepsy characterized by recurrent brief episodes of "absences," or staring spells, that can last from a few seconds to several minutes. These episodes are often accompanied by subtle body movements such as lip smacking or eyelid flutters. Absence epilepsy is most commonly diagnosed in children and adolescents, and it is more common in girls than boys.

The seizures in absence epilepsy are caused by abnormal electrical activity in the brain, specifically in a part of the brain called the cortex. These abnormal electrical discharges occur in a pattern that involves both sides of the brain simultaneously. This differs from other types of epilepsy, which may involve only one side of the brain or specific areas within a single hemisphere.

Absence seizures are typically brief and do not cause confusion or disorientation after they end. However, if they occur frequently, they can interfere with learning and social development. In some cases, absence epilepsy may be associated with other types of seizures, such as generalized tonic-clonic (grand mal) seizures or myoclonic jerks.

The diagnosis of absence epilepsy is usually made based on the characteristic symptoms and the results of an electroencephalogram (EEG), which can detect the abnormal electrical activity in the brain during a seizure. Treatment typically involves medication to control the seizures, such as ethosuximide or valproic acid. In some cases, a ketogenic diet may also be recommended as an alternative treatment option.

I'm sorry for any confusion, but "pamphlets" is not a medical term. It refers to a small paper booklet or leaflet that can be used to provide information on various topics, including non-medical subjects. If you have any questions about medical terminology or concepts, I'd be happy to help with those!

Neurology is a branch of medicine that deals with the study and treatment of diseases and disorders of the nervous system, which includes the brain, spinal cord, peripheral nerves, muscles, and autonomic nervous system. Neurologists are medical doctors who specialize in this field, diagnosing and treating conditions such as stroke, Alzheimer's disease, epilepsy, Parkinson's disease, multiple sclerosis, and various types of headaches and pain disorders. They use a variety of diagnostic tests, including imaging studies like MRI and CT scans, electrophysiological tests like EEG and EMG, and laboratory tests to evaluate nerve function and identify any underlying conditions or abnormalities. Treatment options may include medication, surgery, rehabilitation, or lifestyle modifications.

"Lafora Disease". AGSD-UK. 2018-10-17. Retrieved 2021-11-28. "Lafora disease , Genetic and Rare Diseases Information Center ( ... Lafora disease is distinguished by the presence of inclusions called Lafora bodies within the cytoplasm of cells. Lafora bodies ... "Lafora disease research". www.canineepilepsy.co.uk. Retrieved 2017-11-07. Minassan (2000). "Lafora's Disease:Towards a Clinical ... Lafora is a rare disease, meaning it is very rare in children, adolescents and adults worldwide. However, Lafora disease has a ...
Lafora disease Nanduri, Anish S; Kaushal Neal; Clusmann Hans; Binder Devin K (June 2008). "The maestro don Gonzalo Rodríguez- ... "Lafora disease". In total, he published approximately 200 papers covering a wide range of subjects in neurology, psychiatry, ... Gonzalo Rodríguez Lafora (25 July 1886 - 27 December 1971) was a Spanish neurologist. He was a disciple of Nicolás Achúcarro ... In 1913, Lafora described another case, and acknowledged Lewy as the discoverer, naming them cuerpos intracelulares de Lewy ( ...
Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. Lafora's disease can be diagnosed using ... ULD was not recognized as a disease until a century later due to the rarity of the disease. In 1911, Lafora identified Lafora ... Unverricht-Lundborg disease (Baltic myoclonus) Myoclonus epilepsy and ragged red fibres (MERRF syndrome) Lafora disease ... form of Gaucher disease Tetrahydrobiopterin deficiencies Alpers disease Juvenile Huntington disease Niemann-Pick disease type C ...
Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. Polyglucosan storage ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Pompe Disease is also known as GSD-II). A non-profit, federation of Pompe disease patient's groups world-wide. It seeks to ... Loss of cortical neurons underlies the neuropathology of Lafora disease. Mol Brain 2014;7:7 PMC 3917365 Hedberg-Oldfors C, ...
Goldsmith D, Minassian BA (2016). "Efficacy and tolerability of perampanel in ten patients with Lafora disease". Epilepsy Behav ... It is a disease that presents Myoclonus as a sequela of hypoxic disorders in the brain due to asphyxiation and cardiopulmonary ... 2017). "Perampanel in 12 patient swith Unverricht-Lundborg disease". Epilepsia. 58: 543-547. doi:10.1016/j.yebeh.2016.06.041. ...
... regulates autophagy via Mammalian target of rapamycin, which is impaired in Lafora disease. Ortolano S, Vieitez I, Agis ... which is mutated in patients with Lafora disease. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate ... "Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease". Molecular Brain. 7: 7. doi:10.1186/1756- ... the most common protein mutated in Lafora disease, regulates autophagy". Human Molecular Genetics. 19 (14): 2867-76. doi: ...
2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study". Neurology. 64 (6): 982-6. doi:10.1212/01.WNL. ... Gentry MS, Worby CA, Dixon JE (2005). "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and ... Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in ... GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type v t e (Articles with short description, Short ...
Lafora disease is a rare genetic disorder marked by the presence of abnormal polyglucosan deposits. These "Lafora bodies" ... Niemann-Pick disease type C, another lipid storage disease, includes abnormal lipid storage in sweat glands. Schindler disease ... Some diseases of the sweat glands include: Fox-Fordyce disease The apocrine sweat glands become inflamed, causing a persistent ... "Diagnosis by axilla skin biopsy in an early case of Lafora's disease". Journal of Neurology, Neurosurgery, and Psychiatry. 55 ( ...
Parkinson's disease, Lafora disease, Alzheimer's disease, atherosclerosis, heart failure, myocardial infarction, fragile X ... Parkinson's disease, Alzheimer's disease, Huntington's disease, depression, and multiple sclerosis. It is also indicated in ... 2015). "Increased oxidative stress and impaired antioxidant response in Lafora disease". Molecular Neurobiology. 51 (3): 932- ... Oxidative stress is suspected to be important in neurodegenerative diseases including Lou Gehrig's disease (aka MND or ALS), ...
Spanish neurologist Lafora disease, genetic disorder This page lists people with the surname Lafora. If an internal link ... Lafora is a surname. Notable people with the surname include: Alfredo de Zavala y Lafora (1893-1995), Spanish lawyer Carlos ... Rodríguez Lafora (1884-1966), Spanish chess player and chess composer Gonzalo Rodríguez Lafora (1886-1971), ...
During his early days at IITK, he led a team of scientists researching on the Lafora disease (LD) to establish the role played ... "Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease ... Known for his pioneering studies on Lafora progressive myoclonic epilepsy and other neurodegenerative disorders, Ganesh is an ... Later, he focused his work to other neurodegenerative disorders such as central nervous system diseases, cardiovascular ...
Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease. ... Lafora disease is also known as Lafora progressive myoclonus epilepsy, which is an autosomal recessive inherited disorder ... "Lafora progressive myoclonus epilepsy". Genetics Home Reference. "Unverricht-Lundborg disease". Genetics Home Reference. Mole, ... All diseases in this group are lysosomal-storage disorders that also lead to death roughly ten years after onset of the disease ...
Using morphological methods, he studied progressive myoclonus epilepsy (lafora disease), an autosomal recessive disease with ... Internal diseases during pregnancy is a further focus of his work, about which he has published He is the author or co-author ... Much of his scientific work focusses on diseases of the gastro-intestinal tract, the liver, problems of metabolism and ... He studiedenzyme diagnostics of liver and bile duct diseases and the further development of endoscopic procedures in adults and ...
Lafora disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two ... Parkinson's disease, Alzheimer's disease, opsoclonus myoclonus, Creutzfeldt-Jakob disease, Lyme disease and lupus. Myoclonic ... Parkinson's disease, dystonia, cerebral palsy, Alzheimer's disease, Gaucher's disease, subacute sclerosing panencephalitis, ... Lafora disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other ...
Joseph, Rajiv Madathiparambil (15 December 2013). "Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, ... dephosphorylation and activation of the enzyme glycogen synthase may also play an indirect role in contributing to the disease ...
Lafora disease (EPM2a or EMP2b), Neuronal ceroid lipofuscinosis (NCL) and sialidosis. Progressive myoclonic epilepsies ... Unverricht-Lundborg disease was first known as one of two different diseases, depending on the location of the individual who ... For early Unverricht-Lundborg disease patients, the disease would begin to progress early and lack of effective treatment meant ... A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiology of Disease 25:675-85 Warmouth G., ...
For juvenile-onset disease, familial essential myoclonus and epilepsy (FEME), Lafora, Unverricht-Lundborg, Neuroaxonal ... Of these diseases, DRPLA is most similar to Huntington's disease.[citation needed] DRPLA can be juvenile-onset (. 40 years). ... In similar polyQ diseases, the association of this PML shell has been shown to be size-dependent with larger NIIs being PML ... It is also known as Haw River Syndrome and Naito-Oyanagi disease. Although this condition was perhaps first described by Smith ...
Lafora disease, neuronal ceroid lipofucinosis, and sialdosis. Rasmussen's encephalitis is a symptomatic localization-related ... Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF ... Epilepsies with onset in childhood are a complex group of diseases with a variety of causes and characteristics. Some people ... Others have underlying inherited metabolic diseases, chromosomal abnormalities, specific eye, skin and nervous system features ...
He has also identified new targets in diseases such as Lafora disease, a form of epilepsy, autism and Angelman syndrome which ... "Azadiradione Restores Protein Quality Control and Ameliorates the Disease Pathogenesis in a Mouse Model of Huntington's Disease ... He led a team of scientists from NBRC and Bose Institute who conducted experiments on Huntington's disease, an inherited ... He has delivered keynote or invited speeches at seminars such as the International Conference on Neurodegenerative Diseases: ...
... including Lafora disease, dentatorubropallidoluysian atrophy, and celiac disease. The diagnosis of Ramsay Hunt syndrome type 1 ... Lu CS, Thompson PD, Quinn NP, Parkes JD, Marsden CD (1986). "Ramsay Hunt syndrome and coeliac disease: a new association?". ... of a regulatory mechanism between cerebellar and brainstem nuclei and has been associated with a wide range of diseases, ...
Huntington disease MeSH C16.320.400.480 - Lafora disease MeSH C16.320.400.500 - Lesch-Nyhan syndrome MeSH C16.320.400.520 - ... Tay-Sachs disease MeSH C16.320.565.150.435.825.300.300.920 - Tay-Sachs disease, AB variant MeSH C16.320.565.150.435.825.300.400 ... glycogen storage disease type I MeSH C16.320.565.202.449.500 - glycogen storage disease type II MeSH C16.320.565.202.449.510 - ... glycogen storage disease type IV MeSH C16.320.565.202.449.560 - glycogen storage disease type V MeSH C16.320.565.202.449.580 - ...
... type C Lactate dehydrogenase deficiency Lactic acidosis congenital infantile Ladda-Zonana-Ramer syndrome Lafora disease ... This is a list of diseases starting with the letter "L". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ... disease Lehman syndrome Leichtman-Wood-Rohn syndrome Leifer-Lai-Buyse syndrome Leigh disease Leigh syndrome, French Canadian ... beta-mannosidase deficiency Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal storage disease ( ...
Hermann Küttner Lafora's disease - Gonzalo Rodriguez Lafora Laron syndrome - Zvi Laron Laurence-Moon syndrome - John Zachariah ... Begbie disease, Flajan disease, Flajani-Basedow syndrome, Graves disease, Graves-Basedow disease, Marsh disease, Morbus Basedow ... Disease naming structures which reference place names (such as Bornholm disease, Lyme disease, and Ebola virus disease) are ... examples being Lou Gehrig disease, Hartnup disease, and Mortimer disease. In one instance, Machado-Joseph disease, the eponym ...
... huntington disease MeSH C10.574.500.529 - lafora disease MeSH C10.574.500.536 - lesch-nyhan syndrome MeSH C10.574.500.540 - ... lewy body disease MeSH C10.228.140.079.862.500 - parkinson disease MeSH C10.228.140.079.862.800 - parkinson disease, secondary ... lewy body disease MeSH C10.228.662.600.400 - parkinson disease MeSH C10.228.662.600.700 - parkinson disease, secondary MeSH ... lafora disease MeSH C10.228.140.490.250.650.700 - merrf syndrome MeSH C10.228.140.490.250.650.900 - unverricht-lundborg ...
Gene identification in Lafora Epilepsy (with Berge Minassian) and its canine counterpart A disease-relevant MECP2 isoform ... Research at TCAG focuses on the genetic and genomic basis of human variability, health and disease, including research on the ... the Canadian Genetic Diseases Network (CGDN) large insert clone core, the CGDN DNA Sequencing Core and the SickKids ... to be used as controls in studies of common diseases. To efficiently complete this project, TCAG partnered with John ...
The disease would not become known as Alzheimer's disease until 1910, when Kraepelin named it so in the chapter on "Presenile ... he was substituted by Gonzalo Rodríguez Lafora. Alzheimer was known for having a variety of medical interests including ... "Prague: What say you, Alois - Should it be 'Alzheimer-Fischer' disease?". Journal of Alzheimer's Disease. 17 (3). "Tuebingen: ... By 1911, his description of the disease was being used by European physicians to diagnose patients in the US. American Solomon ...
Lafora disease, lymphoma, multiple myeloma, myotonic dystrophy, Parkinson's disease, Pelizaeus-Merzbacher disease, and prion ... non-alcoholic fatty liver disease, Parkinson's disease, prostate cancer, Stargardt disease, STAT3-expressing cancers, Usher ... Several ASOs are currently being investigated in disease models for Alexander disease, ATXN2 (gene) and FUS (gene) amyotrophic ... "Summary Report" (PDF). Pollack A (29 January 2013). "F.D.A. Approves Genetic Drug to Treat Rare Disease". The New York Times. " ...
Named along with German neurologist Adolph Strümpell (1853-1925). The disease is sometimes referred to as "Bekhterev Disease"; ... Marie at the beginning of the 20th century account the Spanish neuropathologists Nicolás Achúcarro and Gonzalo Rodríguez Lafora ... Charcot-Marie-Tooth disease Archived 2011-05-14 at the Wayback Machine @ Who Named It Tumblety, Joan (2012). Remaking the Male ... His analysis of the disease was an important contribution in the emerging field of endocrinology. Marie is also credited as the ...
Lafora disease Lesch-Nyhan syndrome (juvenile gout) Lichen amyloidosis Limited joint mobility Lipoid proteinosis (hyalinosis ... Adult linear IgA disease Bullous pemphigoid Bullous lupus erythematosus Childhood linear IgA disease (chronic bullous disease ... Weil's disease) Listeriosis Ludwig's angina Lupoid sycosis Lyme disease (Afzelius' disease, Lyme borreliosis) Lymphogranuloma ... Haxthausen's disease) Keratosis punctata palmaris et plantaris (Buschke-Fischer-Brauer disease, Davis Colley disease, ...
... see Spinal muscular atrophy Lafora disease Lambert-Eaton myasthenic syndrome Landau-Kleffner syndrome Lateral medullary ( ... disease Paraneoplastic diseases Paroxysmal attacks Parry-Romberg syndrome Pelizaeus-Merzbacher disease Periodic paralyses ... neurological sequelae Lyme disease Machado-Joseph disease Macrencephaly Macrocephalia Macropsia Mal de debarquement ... Phantom pain Photic sneeze reflex Phytanic acid storage disease Pick's disease Pinched nerve Pituitary tumors Polyneuropathy ...
"Lafora Disease". AGSD-UK. 2018-10-17. Retrieved 2021-11-28. "Lafora disease , Genetic and Rare Diseases Information Center ( ... Lafora disease is distinguished by the presence of inclusions called Lafora bodies within the cytoplasm of cells. Lafora bodies ... "Lafora disease research". www.canineepilepsy.co.uk. Retrieved 2017-11-07. Minassan (2000). "Laforas Disease:Towards a Clinical ... Lafora is a rare disease, meaning it is very rare in children, adolescents and adults worldwide. However, Lafora disease has a ...
Lafora disease from Neuroscience News features breaking science news from research labs, scientists and colleges around the ... Researchers report an accumulation of glycogen in Lafora disease directly causes apoptosis, triggers autophagy and synaptic ... Alzheimers Disease. Parkinsons News. Autism / ASD News. Neurotechnology News. Artificial Intelligence News. Robotics News ...
Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in ... Lafora disease, seizures and sugars. Acta Myol. 2007 Jul;26(1):83-6. Citation on PubMed or Free article on PubMed Central ... Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology. 2007 Mar 27;68(13):996 ... Although Lafora bodies are found in many of the bodys tissues, the signs and symptoms of Lafora progressive myoclonus epilepsy ...
... patient patient advocacy patient groups Patients rare rare disease rare disease day rare diseases Rare Diseases Action Plan ... Lafora disease researchers and clinicians at Instituto delle Scienze Neurologiche di Bologna (ISNB) IRCCS will host the 8th ... Annual Lafora Disease Science Symposium in Bologna, Italy from October 9-10, 2023. ...
I am very happy that the Kennel Club have now put testing in place which will prevent Lafora disease from being accidentally ... The Dachshund Breed Council expressed concern that this could lead to Laforas disease, a debilitating neurological condition ... It is therefore possible for a Mini Smooth to be born from two Mini Wire parents and for the Lafora mutation therefore to be ... Gill Key, Pet Advisor on the Breed Councils Health Committee said I owned a Miniature Wire affected badly by Lafora and have ...
Please join us for our first Lafora Disease Research Roundtable! It will be held via Zoom on Thursday, April 27th, 10:30 am - ... Annual Lafora Disease Science Symposium *2023 Lafora Disease Science Symposium Registration. *2022 Lafora Disease Science ... Well bring together Lafora Disease and Adult Polyglucosan Body Disease researchers around a common goal: reducing glycogen ... First Lafora Disease Research Roundtable April 20, 2023. /0 Comments/in News, Whats New /by Christine Kelly. Please join us ...
Annual Lafora Disease Science Symposium *2023 Lafora Disease Science Symposium Registration. *2022 Lafora Disease Science ... Copyright © 2017-2023 Chelseas Hope Lafora Children Research Fund. All Rights Reserved. *What is Lafora Disease? ... The mission of Chelseas Hope is to improve the lives of those affected by Lafora Disease and help accelerate the development ... Families, do you have questions about therapies and treatment for Lafora Disease? You have a chance to ask the experts! Youre ...
Lafora disease (LD) is a fatal, congenital, neurodegenerative epilepsy. Mutations in the gene encoding the glycogen phosphatase ... Lafora disease (LD) is a fatal, congenital, neurodegenerative epilepsy. Mutations in the gene encoding the glycogen phosphatase ... Lafora disease (LD) is a fatal, congenital, neurodegenerative epilepsy. Mutations in the gene encoding the glycogen phosphatase ... Lafora disease (LD) is a fatal, congenital, neurodegenerative epilepsy. Mutations in the gene encoding the glycogen phosphatase ...
Lafora Disease; temporal lobe epilepsy; basic research on synaptic function; tripartite synapse.. Molecular structure, function ... Alzheimers Disease and Alzheimers Disease-Related Dementias (AD/ADRD); Diverse VCID: White Matter Lesion Etiology of Dementia ... SUP - Alzheimers Disease and Alzheimers Disease-Related Dementias (AD/ADRD) Research Supplements to Promote Diversity in ... Alzheimers Disease and Alzheimers Disease-Related Dementias (AD/ADRD). Vascular contributions to cognitive impairment and ...
A novel gene therapy for neurodegenerative Lafora disease via EPM2A-loaded DLinDMA lipoplexes ... DLinDMA liposomesGene DeliveryGene therapyLafora diseaselaforinNeurodegenerative DisordersRare DiseasesNeurogeneticsNeurology ... Supplementary Figure 1: A novel gene therapy for neurodegenerative Lafora disease via EPM2A-loaded DLinDMA lipoplexes. ... Clues from a rare neurodegenerative disease towards target identification for diabetes mellitus. National Institute of General ...
Lafora disease (LD) is rare neurological disorder characterized by progressive myoclonus epilepsy and accumulation of poorly ... These results suggest that astrocytes play a crucial role in the pathophysiology of Lafora disease, and that their dysfunction ... Astrocytes: new anti-epileptic targets in Lafora disease. 18th national competition for scientific and technical research ... Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research ...
Lafora disease: a case report. Zeka N, et al. J Med Case Rep. 2022. PMID: 36192771 Free PMC article. ... Efficacy of zonisamide in Laforas disease case and brief review of its use in progressive myoclonic epilepsy]. Rubio-Nazábal E ... Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model. Mollá B, et al. Mol ... Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease. Burgos DF, et al. Neurotherapeutics. 2023. ...
Laforas disease). Clare Rusbridge is the chief veterinary collaborator for an ongoing project on Lafora disease (a ... Since Clare Rusbridges original description of the disease she has led the veterinary world on the treatment of this disease ... This has led to better understanding of the disease in humans. In addition, a test for detection of affected and carrier dogs ... Clare provided the first description of this disease in the dog published in 2000 and came to realize quickly that this ...
Bisulli, F. et al. Treatment with metformin in twelve patients with Lafora disease. Orphanet. J. Rare Dis. 14, 149 (2019). ... Previous studies suggested that abnormal mitochondrial function is associated with diseases such as Parkinsons disease and ... Considering the great potential of Met for the treatment of different diseases34,35,36,37,38,39,40,41,42,43, further ... Bender, A. et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. ...
Lafora disease can be caused by mutations in a gene that regulates the concentration of the protein laforin Researchers at ... Latinos develop symptoms of Alzheimers disease earlier U.S. Latinos develop symptoms of Alzheimers disease earlier, on ... have found that Lafora disease, an inherited form of epilepsy that results in death by the age of 30, can be caused by ... Vaccine against Alzheimers disease may still be on the cards A new, but modified, trial of an Alzheimers vaccine has begun in ...
Tsuda H, Katsumi Y, Nakamura M. [Cerebral blood flow and metabolism in Lafora disease]. Rinsho Shinkeigaku. 1995 Feb. 35(2):175 ... P300 long-latency auditory EPs have been considered for using in evaluation for Alzheimer disease. In Alzheimer disease, the ... Thus, 21 patients who had labyrinthine diseases (ie, Ménière disease, labyrinthitis, vestibular neuronitis) had no BAEP ... Note that in such cases, the VEP is still useful, in that it rules out disease up to area 17 in patients with a normal response ...
Lafora disease in Miniature Wirehaired Dachshunds. Research authors: A Tauro, BA Minassian, C Ackerley, Clare Rusbridge, G Key ... NHLRC1 repeat expansion in two beagles with Lafora disease. Research authors: V Simerdova, C. Rusbridge, P Wang, BA Minassian, ... Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom. ... Boston A Ridyard Gilles Le Naour VX Wang Milne M Cruciate ligament disease Vets Cell saver machine G Cassali K M E Faller An Q ...
IBEC researchers contribute to discover the cause of epilepsy and neurodegeneration in Lafora disease. The accumulation of ... Similar experiments are also developed in the case of tau, one of the hallmarks of Alzheimer´s disease, since tau also binds to ... α-Synuclein is a key player in the pathogenesis of synucleinopathies, including Parkinsons disease, dementia with Lewy bodies ... Spanish Network of Neurodegerative Diseases of the Ministry of Heath (FIS) (2009-2017). CIBERNED, Reference: P1-L14. José ...
Astrocytes: new anti-epileptic targets in Lafora disease 2016 Senior Researcher : Pascual Felipe Sanz Bigorra more information ... Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies 2011 ... more information on Hereditary metabolic diseases: searching for new genes that cause diseases and research into new ... The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model ( ...
Glycogen accumulation underlies neurodegeneration and autophagy impairment in lafora disease. Duran J; Gruart A; García-Rocha M ...
Lafora disease in a Beagle - diagnosis and therapy * Full Text ... Lafora-Erkrankung bei einem Beagle - Diagnose und Therapie ... Properties of drugs and their use in various immune-mediated diseases * Full Text ...
Lafora body disease. *Landau-Kleffner syndrome. *Lead. *Lennox-Gastaut syndrome. *Lidocaine. *Lithium ...
Lafora body disease іѕ a rare gеnеtіс dіѕоrdеr rеѕроnѕіblе fоr саuѕіng рrоgrеѕѕіvе dеmеntіа аnd movement рrоblеmѕ. The ѕуmрtоmѕ ... Dіffеrеnt tуреѕ оf dеmеntіаѕ fоr example, Alzheimers disease, Pаrkіnѕоnѕ dementia, Picks disease аrе identified by thе ... 1. Alzhеіmеrѕ disease Alzhеіmеrѕ dіѕеаѕе is thе most соmmоn type оf dementia frеԛuеntlу seen іn thе age grоuр of 65 уеаrѕ оr ... Huntіngtоnѕ disease іѕ a hеrеdіtаrу dіѕоrdеr caused bу a wrong gеnе forming a рrоtеіn knоwn аѕ huntіngtіn and the
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin). EYA4. 2070. 6q23. 133562495. 133853258. 290763. REVIEWED. ...
Early Parkinsonism in a Senegalese girl with Lafora disease.. We report an atypical presentation LaFora disease in a Senegalese ... Treatment with metformin in twelve patients with Lafora disease.. LaFora disease (LD) is a rare, lethal, progressive myoclonus ... Early Parkinsonism in a Senegalese girl with Lafora disease. * Genotypes and phenotypes of patients with Lafora disease living ... Early Parkinsonism in a Senegalese girl with Lafora disease. * Genotypes and phenotypes of patients with Lafora disease living ...
Early Parkinsonism in a Senegalese girl with Lafora disease. * Genotypes and phenotypes of patients with Lafora disease living ... Early Parkinsonism in a Senegalese girl with Lafora disease. * Genotypes and phenotypes of patients with Lafora disease living ... FDG-PET assessment and metabolic patterns in Lafora disease.. AIMTo describe the pattern of brain glucose metabolism assessed ... Treatment with metformin in twelve patients with Lafora disease. * Regulation of the autophagic PI3KC3 complex by laforin/malin ...
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease ... implications for Alzheimers disease. Journal of Alzheimers Disease : Jad. 29: 921-30. PMID 22337826 DOI: 10.3233/Jad-2012- ... Beta-amyloid controls altered Reelin expression and processing in Alzheimers disease. Neurobiology of Disease. 37: 682-91. ... Journal of Alzheimers Disease : Jad. 42: 1357-82. PMID 25024348 DOI: 10.3233/Jad-140891 0.733. ...
... as abnormal glycogen has been associated with Lafora disease (Parihar et al., 2018) and aberrant levels diminish the overall ... and loss of estrogen increases ROS levels and accelerates aging in diseases like Alzheimers disease (Stice et al., 2009). ... Gender difference in oxidative stress: a new look at the mechanisms for cardiovascular diseases ... The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases ...
... such as Lafora body disease. More specific findings are vertex sharp waves in sialidosis, occipital spikes in Lafora body, and ... giant VEPs in Battens disease (late infantile neurolipofuscinosis).. Partial epilepsy syndromes. Mesial temporal lobe epilepsy ...
  • Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. (wikipedia.org)
  • Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. (medlineplus.gov)
  • In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. (medlineplus.gov)
  • Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. (medlineplus.gov)
  • People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear. (medlineplus.gov)
  • The prevalence of Lafora progressive myoclonus epilepsy is unknown. (medlineplus.gov)
  • Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. (medlineplus.gov)
  • Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. (medlineplus.gov)
  • Although Lafora bodies are found in many of the body's tissues, the signs and symptoms of Lafora progressive myoclonus epilepsy are limited to the nervous system. (medlineplus.gov)
  • Mutations in the EPM2A and NHLRC1 genes account for 80 percent to 90 percent of all cases of Lafora progressive myoclonus epilepsy. (medlineplus.gov)
  • Lafora disease (LD) is a fatal, congenital, neurodegenerative epilepsy. (uky.edu)
  • Lafora disease (LD) is rare neurological disorder characterized by progressive myoclonus epilepsy and accumulation of poorly branched glycogen-like deposits in brain, named Lafora bodies (LBs). Unfortunately there is no available treatment yet for this disease, what leads to the death of the patient around ten years after the appearance of the first symptoms. (fundacionareces.es)
  • Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy]. (nih.gov)
  • After diagnosing this rare progressive myoclonic epilepsy in a canine patient in 2001, she links with Dr. Berge Minassian to study the mutation causing the disease. (surrey.ac.uk)
  • Researchers at University of California, San Diego (UCSD) have found that Lafora disease, an inherited form of epilepsy that results in death by the age of 30, can be caused by mutations in a gene that regulates the concentration of the protein laforin. (news-medical.net)
  • LaFora disease (LD) is a rare, lethal, progressive myoclonus epilepsy which no targeted therapies currently available. (laforadogs.org)
  • Dr Goldberg hopes that the funding from this award will help with research into epilepsy, Lafora disease and Steroid Responsive Meningitis in the breed, as well as provide the means to conduct further health surveys and upgrade the breed's website platform. (thekennelclub.org.uk)
  • Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. (uky.edu)
  • The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. (uky.edu)
  • Mutations in the gene encoding the glycogen phosphatase laforin result in hyperphosphorylated glycogen that forms water-insoluble inclusions called Lafora bodies (LBs). LBs induce neuronal apoptosis and are the causative agent of LD. (uky.edu)
  • Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. (uky.edu)
  • Chelsea's Hope Lafora Children Research Fund is an IRS 501(c)3 non-profit organization. (chelseashope.org)
  • Lafora disease researchers and clinicians at Instituto delle Scienze Neurologiche di Bologna (ISNB) IRCCS will host the 8th Annual Lafora Disease Science Symposium in Bologna, Italy from October 9-10, 2023. (m4rd.org)
  • The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. (wikipedia.org)
  • Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. (medlineplus.gov)
  • It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies. (medlineplus.gov)
  • α -Synuclein is a key player in the pathogenesis of synucleinopathies , including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. (ibecbarcelona.eu)
  • Lafora disease is an autosomal recessive disorder, caused by loss of function mutations in either the laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). (wikipedia.org)
  • Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. (laforadogs.org)
  • Lafora disease is an autosomal recessive neurodegenerative disease described first by Lafora and Glück in 1911. (huveta.hu)
  • Researchers report an accumulation of glycogen in Lafora disease directly causes apoptosis, triggers autophagy and synaptic failure. (neurosciencenews.com)
  • Puri R, Suzuki T, Yamakawa K, and Ganesh S . (2012) Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. (iitk.ac.in)
  • She answered questions from families in attendance at the 2022 Lafora Disease Science Symposium and presented at our June Research Roundtable. (chelseashope.org)
  • The Dachshund Breed Council expressed concern that this could lead to Lafora's disease, a debilitating neurological condition which currently affects only Miniature Wire Haired Dachshunds, from entering the gene pool of other varieties. (dachshundhealth.org.uk)
  • FDG-PET assessment and metabolic patterns in Lafora disease. (laforadogs.org)
  • Researchers are searching for other genetic changes that may underlie this disease. (medlineplus.gov)
  • We'll bring together Lafora Disease and Adult Polyglucosan Body Disease researchers around a common goal: reducing glycogen aggregation in the brain. (chelseashope.org)
  • The Global Journal of Rare Diseases urges the prominent researchers, intensive writers and workaholic doctors to publish breakthrough manuscripts with Peertechz that can lead the way to studies leading to education, research and advocacy towards patient services to improve the lives of all people living with rare diseases. (peertechzpublications.org)
  • Neurodegeneration and neurodegenerative diseases (including the shared mechanisms of nerve cell death that contribute to many diseases), Vascular Cognitive Impairment and Dementia (VCID), NINDS tissue/cell resources, basic invertebrate neuromuscular junction (NMJ). (nih.gov)
  • Our leading genetic testing panel for dog breeders includes 270+ genetic health tests , now including Chondrodystrophy (CDDY), Intervertebral Disc Disease (IVDD), and Dermatomyositis risks, along with 50+ traits , now including cocoa and roan, and genetic diversity. (mydogdna.com)
  • The dachshund varieties are known to be clinically affected, at various levels of prevalence and severity, by eye, skeletal (intervertebral disc disease), heart and seizure disorders. (dogwellnet.com)
  • Other common signs and symptoms associated with Lafora disease are behavioral changes due to the frequency of seizures. (wikipedia.org)
  • These results suggest that astrocytes play a crucial role in the pathophysiology of Lafora disease, and that their dysfunction may lead to neuronal alterations. (fundacionareces.es)
  • Similar experiments are also developed in the case of tau, one of the hallmarks of Alzheimer´s disease, since tau also binds to PrP C during its inter- neuronal propagation. (ibecbarcelona.eu)
  • This genetic mutation is the cause for 17% of the EPM2A-caused Lafora disease cases. (wikipedia.org)
  • All our Breed Clubs agreed it was important to put measures in place to avoid knowingly introducing the Lafora mutation in the other varieties via recessive coat registrations. (dachshundhealth.org.uk)
  • It is therefore possible for a Mini Smooth to be born from two Mini Wire parents and for the Lafora mutation therefore to be introduced into the Mini Smooth gene pool when the recessive coated puppy is registered. (dachshundhealth.org.uk)
  • Abstract Oxidative stress, which occurs when an organism is exposed to an adverse stimulus that results in a misbalance of antioxidant and pro-oxidants species, is the common denominator of diseases considered as a risk factor for SARS-CoV-2 lethality. (ibecbarcelona.eu)
  • Lafora disease (LD) was described by the Spanish neuropathologist Gonzalo Rodríguez Lafora (1886-1971) in 1911, while directing the Neuropathology Section at the Government Hospital for Mental Insane (current NIH, US). (wikipedia.org)
  • These mutations in either of these two genes lead to polyglucosan formation or lafora body formation in the cytoplasm of heart, liver, muscle, and skin. (wikipedia.org)
  • Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease. (nih.gov)
  • Clare provided the first description of this disease in the dog published in 2000 and came to realize quickly that this disorder was more than a simple cerebellar herniation and rather was an extremely complex malformation of the skull and cervical vertebrae linked to brachycephalic head and facial characteristics. (surrey.ac.uk)
  • 545 Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder. (wikipedia.org)
  • At present, there is no cure for this disease, but there are ways to deal with symptoms through treatments and medications. (wikipedia.org)
  • The presentations will be geared toward the science community as we work to build allies toward developing treatments for Lafora disease, but everyone is welcome. (chelseashope.org)
  • The mission of Chelsea's Hope is to improve the lives of those affected by Lafora Disease and help accelerate the development of treatments. (chelseashope.org)
  • Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model. (nih.gov)
  • The manager of a music store has been charged with the exploitation of the elderly, after allowing a woman with Alzheimer's disease to buy 11 organs from him over 18 months and that included four on one single day. (news-medical.net)
  • Their findings, which will be highlighted at the upcoming 2005 American Association of Pharmaceutical Scientists' (AAPS) National Biotechnology Conference in San Francisco, brings renewed hope to the 4.5 million Americans who have Alzheimer's disease. (news-medical.net)
  • Most common types of dеmеntіа include Alzheimer's disease, vascular and frontotemporal dеmеntіа аnd dеmеntіа wіth Lеwу bоdіеѕ. (selfgrowth.com)
  • About 360,000 new cases оf Alzheimer's disease аrе reported еvеrу уеаr аnd 50,000 Americans dіе аnnuаllу. (selfgrowth.com)
  • iii) devices tmigrating neurons (in collaboration with i3A, Zaragoza) and, iv) in silico 3D modeling for neurodegenerative diseases (Alzheimer and Parkinson chip). (ibecbarcelona.eu)
  • SIVA-1 regulates apoptosis and synaptic function by modulating XIAP interaction with the death receptor antagonist FAIM-L. Cell Death & Disease . (neurotree.org)
  • Treatment with metformin in twelve patients with Lafora disease. (laforadogs.org)
  • However, Lafora disease has a higher incidence among children and adolescents with ancestry from regions where consanguineous relationships are common, namely the Mediterranean (North Africa, Southern Europe), the Middle East, India, and Pakistan. (wikipedia.org)
  • This tool uses predefined filters to help you quickly refine PubMed searches on clinical or disease-specific topics. (nih.gov)
  • Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases. (cdc.gov)
  • The Global Journal of Rare Diseases welcome manuscripts on new researches, interesting discoveries related to the rare disease community. (peertechzpublications.org)
  • In the present project we propose to gain knowledge on the dysfunctions present in astrocytes from mouse models of Lafora disease, with the aim to identify novel therapeutic targets that could benefit the disease. (fundacionareces.es)
  • Families, do you have questions about therapies and treatment for Lafora Disease? (chelseashope.org)
  • Our Science Director, Dr. Kit Donohue , will overview the current therapies in development for Lafora Disease. (chelseashope.org)
  • For dogs that are affected with Lafora disease, common symptoms are rapid shuddering, shaking, or jerking of the canine's head backwards, high pitched vocalizations that could indicate the dog is panicking, seizures, and - as the disease progresses - dementia, blindness, and loss of balance. (wikipedia.org)
  • Clare Rusbridge is the chief veterinary collaborator for an ongoing project on Lafora disease (a polyglucasan storage disease). (surrey.ac.uk)
  • In dogs, Lafora disease can spontaneously occur in any breed, but the miniature wire-haired dachshund, bassett hound, and the beagle are predisposed to LD. (wikipedia.org)
  • Effect of mutations in the glucocerebrosidase-1 gene on iPS cell-derived neurons from Parkinson´s disease patients. (fundacionareces.es)
  • In healthy neurons tаu рrоtеіn hеlрѕ іn thе funсtіоnіng оf mісrоtubulеѕ but іn thіѕ disease they twist tо fоrm hеlісаl fіlаmеntѕ thаt jоіn іn thе fоrm of tаnglеѕ resulting іn disintegration (selfgrowth.com)
  • Scientists for the first time have watched agents of brain-wasting diseases, called transmissible spongiform encephalopathies (TSE), as they invade a nerve cell and then travel along wire-like circuits to points of contact with other cells. (news-medical.net)
  • Late evoked responses are generally used for studying higher cortical functions (eg, P300 in Alzheimer disease). (medscape.com)
  • I owned a Miniature Wire affected badly by Lafora and have supported many owners with similarly affected dogs. (dachshundhealth.org.uk)
  • Peertechz appeals the authors to play a distinctive role in putting forward rare diseases as a much needed public health priority world-wide. (peertechzpublications.org)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • Since Clare Rusbridge's original description of the disease she has led the veterinary world on the treatment of this disease and I have written several book chapters and provided simple treatment algorithms. (surrey.ac.uk)
  • The most common feature of Lafora disease is seizures that have been reported mainly as occipital seizures and myoclonic seizures with some cases of generalized tonic-clonic seizures, atypical absence seizures, and atonic and complex partial seizures. (wikipedia.org)
  • If areas of the cerebellum are affected by seizures, it is common to see problems with speech, coordination, and balance in Lafora patients. (wikipedia.org)
  • Lafora is a rare disease, meaning it is very rare in children, adolescents and adults worldwide. (wikipedia.org)
  • Please join us for our first Lafora Disease Research Roundtable! (chelseashope.org)
  • It's only one week away, so register today for the Lafora Disease Research Roundtable ! (chelseashope.org)
  • Through this website, the Gerber family has been able to help raise awareness about disease, connect with other Lafora families, and to help fund research to try to find a cure. (chelseashope.org)
  • I want to talk to someone about my research proposal (basic research, neural mechanisms, or disease mechanisms). (nih.gov)
  • Most human patients with this disease do not live past the age of twenty-five, and it often leads to death within ten years of symptoms appearing. (wikipedia.org)