Neuroaxonal Dystrophies
alpha-N-Acetylgalactosaminidase
Group VI Phospholipases A2
Dog Diseases
Muscular Dystrophies
Myotonic Dystrophy
Adaptor Protein Complex 4
Encyclopedias as Topic
Asperger Syndrome
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? (1/34)
Two new individuals with alpha-NAGA deficiency are presented. The index patient, 3 years old, has congenital cataract, slight motor retardation and secondary demyelinisation. Screening of his sibs revealed an alpha-NAGA deficiency in his 7-year-old healthy brother who had no clinical or neurological symptoms. Both sibs are homozygous for the E325K mutation, the same genotype that was found in the most severe form of alpha-NAGA deficiency presenting as infantile neuroaxonal dystrophy. Thus, at the age of 7 years the same genotype of alpha-NAGA may present as a 'non-disease' (present healthy case) and can be associated with the vegetative state (the first two patients described with alpha-NAGA deficiency). The clinical heterogeneity among the 11 known individuals with alpha-NAGA deficiency is extreme, with a 'non-disease' (two cases) and infantile neuroaxonal dystrophy (two cases) at the opposite sides of the clinical spectrum. The broad spectrum is completed by a very heterogeneous group of patients with various degrees of epilepsy/behavioural difficulties/psychomotor retardation (four patients) and a mild phenotype in adults without overt neurological manifestations who have angiokeratoma and clear vacuolisation in various cell types (three cases). These observations are difficult to reconcile with a straightforward genotype-phenotype correlation and suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the 11 patients with alpha-NAGA deficiency. (+info)Neuroaxonal dystrophy in raccoons (Procyon lotor) from Iowa. (2/34)
During a 12-month period (1998-1999), microscopic evidence of neuroaxonal dystrophy (NAD) in medullae oblongata of raccoons (Procyon lotor) was observed in 17/39 (47% prevalence in adults) from Iowa, USA. Three of the animals were kits (<3 months), 26 were between 1 and 2 years, and 10 were over 7 years. Lesions were not seen in the medullae of the 3 kits. In young adults, the lesions were mild and were seen in 7 animals. More severe lesions were present in the 10 older raccoons. Grossly, the brains were unremarkable. Microscopically, NAD was confined to the dorsal caudal medulla, where certain nuclei (predominantly gracilis and cuneate) were bilaterally affected. Severely affected animals had vacuolar degeneration of neurons or neuronal loss and extensive areas of spongiosis. Tests for the presence of PrP(res) in the brain were negative. Spongiotic areas often contained axonal spheroids. Degenerate neurons and axons occasionally contained amphophilic periodic acid-Schiff-positive granular material. There was a paucity of inflammatory cells in the affected areas. Since lesions were not present in kits, were either absent or mild in young adults, and were severe in older raccoons, the findings may be related to advancing age. Neuroaxonal dystrophy has not been previously reported in raccoons. Retrospective examination of raccoon brains from the eastern and northwestern areas of the country revealed very low prevalence of NAD. Because of the apparently high prevalence of this condition at this geographic location, factors other than age (genetic, nutritional, and/or environmental) may influence this degenerative process in the brains of raccoons in Iowa. (+info)Pathogenesis of axonal dystrophy and demyelination in alphaA-crystallin-expressing transgenic mice. (3/34)
We recently described a transgenic mouse strain overexpressing hamster alphaA-crystallin, a small heat shock protein, under direction of the hamster vimentin promoter. As a result myelin was degraded and axonal dystrophy in both central nervous system (especially spinal cord) and peripheral nervous system occurred. Homozygous transgenic mice developed hind limb paralysis after 8 weeks of age and displayed progressive loss of myelin and axonal dystrophy in both the central and peripheral nervous system with ongoing age. Pathologically the phenotype resembled, to a certain extent, neuroaxonal dystrophy. The biochemical findings presented in this paper (activity of the enzymes superoxide dismutase, catalase and transglutamase, myelin protein zero expression levels and blood sugar levels) confirm this pathology and exclude other putative pathologies like Amyothrophic Lateral Sclerosis and Hereditary Motor and Sensory Neuropathy. Consequently, an excessive cytoplasmic accumulation of the transgenic protein or a disturbance of the normal metabolism are considered to cause the observed neuropathology. Therefore, extra-ocular alphaA-crystallin-expressing transgenic mice may serve as a useful animal model to study neuroaxonal dystrophy. (+info)Diffusion-weighted and conventional MR imaging findings of neuroaxonal dystrophy. (4/34)
BACKGROUND AND PURPOSE: Neuroaxonal dystrophy is a rare progressive disorder of childhood characterized by mental deterioration and seizures. The diffusion-weighted and conventional MR imaging findings are reported for six cases. METHODS: Six patients aged 19 months to 9 years with proved neuroaxonal dystrophy (one with the infantile form, five juvenile forms) underwent imaging at 1.5 T. Echo-planar diffusion-weighted images were acquired with a trace imaging sequence in five patients and with a three-gradient protocol (4000/110) in one. Images obtained with a b value of 1000 s/mm2 and corresponding apparent diffusion coefficient (ADC) maps were studied. ADCs from lesion sites and normal regions (pons and temporal and occipital lobes) were evaluated. RESULTS: A hyperintense cerebellum (a characteristic of the disease) was evident on fluid-attenuated inversion recovery images in all cases. Four patients had associated cerebral changes. Diffusion-weighted images, especially ADC maps, showed an elevated diffusion pattern in the cerebellum in the five juvenile cases (normal images at b = 1000 s/mm2, ADCs of 1.30-2.60 x 10(-3) mm2/s). A restricted diffusion pattern was evident in the infantile case (hyperintensity at b = 1000 s/mm2, low ADCs of 0.44-0.55 x 10(-3) mm2/s). ADCs were normal in the pons and temporal and occipital lobes (0.64-1.00 x 10(-3) mm2/s). CONCLUSION: An elevated cerebellar diffusion pattern is a predominant feature of juvenile neuroaxonal dystrophy. Coexistent elevated and restricted diffusion patterns were evident in different brain regions in different forms of the disease. Dystrophic axons likely account the restricted diffusion, whereas spheroid formation (swelling) and abnormal myelination result in elevated diffusion. (+info)Anti-Abeta antibody treatment promotes the rapid recovery of amyloid-associated neuritic dystrophy in PDAPP transgenic mice. (5/34)
Neuritic plaques are a defining feature of Alzheimer disease (AD) pathology. These structures are composed of extracellular accumulations of amyloid-beta peptide (Abeta) and other plaque-associated proteins, surrounded by large, swollen axons and dendrites (dystrophic neurites) and activated glia. Dystrophic neurites are thought to disrupt neuronal function, but whether this damage is static, dynamic, or reversible is unknown. To address this, we monitored neuritic plaques in the brains of living PDAPP;Thy-1:YFP transgenic mice, a model that develops AD-like pathology and also stably expresses yellow fluorescent protein (YFP) in a subset of neurons in the brain. Using multiphoton microscopy, we observed and monitored amyloid through cranial windows in PDAPP;Thy-1:YFP double-transgenic mice using the in vivo amyloid-imaging fluorophore methoxy-X04, and individual YFP-labeled dystrophic neurites by their inherent fluorescence. In vivo studies using this system suggest that amyloid-associated dystrophic neurites are relatively stable structures in PDAPP;Thy-1:YFP transgenic mice over several days. However, a significant reduction in the number and size of dystrophic neurites was seen 3 days after Abeta deposits were cleared by anti-Abeta antibody treatment. This analysis suggests that ongoing axonal and dendritic damage is secondary to Abeta and is, in part, rapidly reversible. (+info)Mammalian E4 is required for cardiac development and maintenance of the nervous system. (6/34)
Ubiquitin conjugation typically requires three classes of enzyme: E1, E2, and E3. A fourth type of enzyme (E4), however, was recently shown to be required for the degradation of certain types of substrate in yeast. We previously identified UFD2a (also known as E4B) as an E4 in mammals. UFD2a is exclusively expressed in cardiac muscle during mouse embryonic development, but it is abundant in neurons of adult mice and is implicated in the pathogenesis of neurodegenerative disease. The precise physiological function of this enzyme has remained largely unknown, however. Here, we show that mice lacking UFD2a die in utero, manifesting marked apoptosis in the developing heart. Polyubiquitylation activity for an E4 substrate was greatly reduced in Ufd2a(-/-) mouse embryonic fibroblasts. Furthermore, Ufd2a(+/-) mice displayed axonal dystrophy in the nucleus gracilis, as well as degeneration of Purkinje cells accompanied by endoplasmic reticulum stress. These animals also developed a neurological disorder. UFD2a thus appears to be essential for the development of cardiac muscle, as well as for the protection of spinocerebellar neurons from degeneration induced by endoplasmic reticulum stress. (+info)Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy. (7/34)
The neuroaxonal dystrophies (NADs) in human beings are fatal, inherited, neurodegenerative diseases with distinctive pathological features. This report describes a new mouse model of NAD that was identified as a spontaneous mutation in a BALB/c congenic mouse strain. The affected animals developed clinical signs of a sensory axonopathy consisting of hindlimb spasticity and ataxia as early as 3 weeks of age, with progression to paraparesis and severe morbidity by 6 months of age. Hallmark histological lesions consisted of spheroids (swollen axons), in the grey and white matter of the midbrain, brain stem, and all levels of the spinal cord. Ultrastructural analysis of the spheroids revealed accumulations of layered stacks of membranes and tubulovesicular elements, strongly resembling the ultrastructural changes seen in the axons of human patients with endogenous forms of NAD. Mouse NAD would therefore seem a potentially valuable model of human NADs. (+info)PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. (8/34)
Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis. (+info)Neuroaxonal dystrophies (NADs) are a group of inherited neurological disorders characterized by degeneration of the neuronal axons, which are the long extensions of nerve cells that transmit impulses to other cells. This degeneration leads to progressive loss of motor and cognitive functions.
The term "neuroaxonal dystrophy" refers to a specific pattern of abnormalities seen on electron microscopy in nerve cells, including accumulation of membranous structures called "spheroids" or "tubulovesicular structures" within the axons.
NADs can be caused by mutations in various genes that play a role in maintaining the structure and function of neuronal axons. The most common forms of NADs include Infantile Neuroaxonal Dystrophy (INAD) or Seitelberger's Disease, and Late-Onset Neuroaxonal Dystrophy (LONAD).
Symptoms of INAD typically begin between ages 6 months and 2 years, and may include muscle weakness, hypotonia, decreased reflexes, vision loss, hearing impairment, and developmental delay. LONAD usually presents in childhood or adolescence with symptoms such as ataxia, dysarthria, cognitive decline, and behavioral changes.
Currently, there is no cure for NADs, and treatment is focused on managing symptoms and improving quality of life.
Alpha-N-Acetylgalactosaminidase (also known as alpha-GalNAcase) is an enzyme that belongs to the class of glycoside hydrolases. Its systematic name is N-acetyl-alpha-galactosaminide galactosaminohydrolase. This enzyme is responsible for catalyzing the hydrolysis of the terminal, non-reducing N-acetyl-D-galactosamine residues in gangliosides and glycoproteins.
Gangliosides are sialic acid-containing glycosphingolipids found in animal tissues, especially in the nervous system. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone.
Deficiency or dysfunction of alpha-N-Acetylgalactosaminidase can lead to various genetic disorders, such as Schindler and Kanzaki diseases, which are characterized by the accumulation of gangliosides and glycoproteins in lysosomes, leading to progressive neurological deterioration.
Group VI Phospholipases A2 (PLA2) are a subclass of the PLA2 family, which are enzymes that hydrolyze the sn-2 ester bond of glycerophospholipids to release free fatty acids and lysophospholipids. Specifically, Group VI PLA2s are calcium-dependent enzymes that have been identified in various tissues, including the brain and testis. They play important roles in several biological processes, such as cell signaling, inflammation, and lipid metabolism.
Group VI PLA2s are further divided into two subgroups: Group VI A and Group VI B. The Group VI A subgroup includes the iPLA2-VIA (also known as PLA2G6) enzyme, which has been implicated in several neurological disorders, such as neurodegenerative diseases and hereditary spastic paraplegia. On the other hand, the Group VI B subgroup includes the pancreatic-type PLA2 (also known as PLA2G1B) enzyme, which is primarily involved in digestion.
It's worth noting that while Group VI PLA2s have important physiological functions, they can also contribute to pathological conditions when their activity is dysregulated. For example, excessive activation of these enzymes has been linked to the development and progression of various inflammatory diseases, such as atherosclerosis, arthritis, and asthma.
There is no medical definition for "dog diseases" as it is too broad a term. However, dogs can suffer from various health conditions and illnesses that are specific to their species or similar to those found in humans. Some common categories of dog diseases include:
1. Infectious Diseases: These are caused by viruses, bacteria, fungi, or parasites. Examples include distemper, parvovirus, kennel cough, Lyme disease, and heartworms.
2. Hereditary/Genetic Disorders: Some dogs may inherit certain genetic disorders from their parents. Examples include hip dysplasia, elbow dysplasia, progressive retinal atrophy (PRA), and degenerative myelopathy.
3. Age-Related Diseases: As dogs age, they become more susceptible to various health issues. Common age-related diseases in dogs include arthritis, dental disease, cancer, and cognitive dysfunction syndrome (CDS).
4. Nutritional Disorders: Malnutrition or improper feeding can lead to various health problems in dogs. Examples include obesity, malnutrition, and vitamin deficiencies.
5. Environmental Diseases: These are caused by exposure to environmental factors such as toxins, allergens, or extreme temperatures. Examples include heatstroke, frostbite, and toxicities from ingesting harmful substances.
6. Neurological Disorders: Dogs can suffer from various neurological conditions that affect their nervous system. Examples include epilepsy, intervertebral disc disease (IVDD), and vestibular disease.
7. Behavioral Disorders: Some dogs may develop behavioral issues due to various factors such as anxiety, fear, or aggression. Examples include separation anxiety, noise phobias, and resource guarding.
It's important to note that regular veterinary care, proper nutrition, exercise, and preventative measures can help reduce the risk of many dog diseases.
An axon is a long, slender extension of a neuron (a type of nerve cell) that conducts electrical impulses (nerve impulses) away from the cell body to target cells, such as other neurons or muscle cells. Axons can vary in length from a few micrometers to over a meter long and are typically surrounded by a myelin sheath, which helps to insulate and protect the axon and allows for faster transmission of nerve impulses.
Axons play a critical role in the functioning of the nervous system, as they provide the means by which neurons communicate with one another and with other cells in the body. Damage to axons can result in serious neurological problems, such as those seen in spinal cord injuries or neurodegenerative diseases like multiple sclerosis.
Muscular dystrophies are a group of genetic disorders that primarily affect skeletal muscles, causing progressive weakness and degeneration. They are characterized by the lack or deficiency of a protein called dystrophin, which is essential for maintaining the integrity of muscle fibers. The most common form is Duchenne muscular dystrophy (DMD), but there are many other types with varying symptoms and severity. Over time, muscle wasting and weakness can lead to disability and shortened lifespan, depending on the type and progression of the disease. Treatment typically focuses on managing symptoms, maintaining mobility, and supporting quality of life.
Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness, myotonia (delayed relaxation of muscles after contraction), and other symptoms. It is caused by an expansion of repetitive DNA sequences in the DMPK gene on chromosome 19 (type 1) or the ZNF9 gene on chromosome 3 (type 2). These expansions result in abnormal protein production and accumulation, which disrupt muscle function and can also affect other organs such as the heart, eyes, and endocrine system. Myotonic dystrophy is a progressive disease, meaning that symptoms tend to worsen over time. It is typically divided into two types: myotonic dystrophy type 1 (DM1), which is more common and severe, and myotonic dystrophy type 2 (DM2), which tends to be milder with a later onset of symptoms.
Adaptor Protein Complex 4 (AP-4) is a group of proteins that form a complex and play a crucial role in the intracellular trafficking of membrane proteins within eukaryotic cells. The AP-4 complex is composed of four subunits, namely, α-Adaptin, β2-Adaptin, Mu-Adaptin, and Sigmal-Adaptin4 (σ4A or σ4B).
The primary function of the AP-4 complex is to facilitate the sorting of proteins in the trans-Golgi network (TGN) and endosomes. It recognizes specific sorting signals present on the cytoplasmic tails of membrane proteins, recruits accessory proteins, and mediates the formation of transport vesicles that carry these proteins to their target destinations.
Mutations in genes encoding AP-4 complex subunits have been associated with several neurological disorders, including hereditary spastic paraplegia (HSP), mental retardation, and cerebral palsy. These genetic defects disrupt the normal functioning of the AP-4 complex, leading to aberrant protein trafficking and impaired neuronal development and function.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).
Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.
Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.
Asperger Syndrome is a developmental disorder that is part of the autism spectrum disorders (ASDs). It is characterized by significant difficulties in social interaction and nonverbal communication, as well as restricted and repetitive patterns of behavior and interests. However, people with Asperger Syndrome usually have normal or above-average intelligence and language development.
The following are some of the diagnostic criteria for Asperger Syndrome according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5):
1. Persistent deficits in social communication and social interaction across multiple contexts, including:
* Deficits in social-emotional reciprocity;
* Deficits in nonverbal communicative behaviors used for social interaction;
* Deficits in developing, maintaining, and understanding relationships.
2. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following:
* Stereotyped or repetitive motor movements, use of objects, or speech;
* Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior;
* Highly restricted, fixated interests that are abnormal in intensity or focus;
* Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment.
3. Symptoms must be present in early childhood but may not become fully manifest until social demands exceed limited capacities or may be masked by learned strategies in later life.
4. Symptoms cause clinically significant impairment in social, occupational, or other important areas of functioning.
5. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay.
It's worth noting that the term "Asperger Syndrome" is no longer used in the DSM-5, and it has been subsumed under the broader category of autism spectrum disorder. However, many people still use the term to describe a particular presentation of ASD with normal language development and intelligence.
Infantile neuroaxonal dystrophy
Pantothenate kinase-associated neurodegeneration
Ohad Birk
Sensory ataxia
Spanish Water Dog
Ataxia
PLA2G6
Synucleinopathy
Phospholipase
Degenerative disease
Schindler disease
Α-N-acetylgalactosaminidase
NAGA (gene)
Isotope effect on lipid peroxidation
Nutritional muscular dystrophy
Pervasive developmental disorder
Dentatorubral-pallidoluysian atrophy
Chihuahua (dog)
Deuterated drug
Di-deuterated linoleic acid ethyl ester
List of diseases (N)
List of MeSH codes (C10)
Deuterium
Reinforced lipids
Heavy isotope diet
Retrotope
List of OMIM disorder codes
Infantile neuroaxonal dystrophy - Wikipedia
Infantile neuroaxonal dystrophy: MedlinePlus Genetics
The infantile neuroaxonal dystrophy rating scale (INAD-RS)
Infantile Neuroaxonal Dystrophy (INAD) - PAN Foundation
Ariya was diagnosed with Infantile Neuroaxonal Dystrophy (INAD) at two years old
SciELO - Brazil - 'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report 'Hallervorden-Spatz...
Infantile neuroaxonal dystrophy (Concept Id: C0270724) - MedGen - NCBI
Fetal-Onset Neonatal Neuroaxonal Dystrophy | Embark Vet
EEG in Dementia and Encephalopathy: Overview, Dementia, Vascular Dementia
EEG in Dementia and Encephalopathy: Overview, Dementia, Vascular Dementia
Atypical Neuroaxonal Dystrophy (Phospholipase A2-Associated Neurodegeneration): Symptoms, Diagnosis and Treatment - Symptoma
Rareshare
Article By Diseases | Bentham Science
Treatment for infantile neuroaxonal dystrophy a step closer as Bloomsbury Genetic Therapies receives Orphan Drug Designations -...
Paw Print Genetics - Neuroaxonal Dystrophy (Spanish Water Dog Type) in the Spanish Water Dog
Acute Disseminated Encephalomyelitis Differential Diagnoses
Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar...
Family fights to find cure for siblings with rare disease
Expanded Carrier Screening | Thermo Fisher Scientific - US
Neurologic Disease Archives - The Horse
Neurol India: Statistics, Table of Contents
Pantothenate kinase-associated neurodegeneration
ACC's First Regional Conferences a Resounding Success - American College of Cardiology
VetContact = Veterinary Medicine Information Service: News, Presentations, Reports, Classifieds, Events, Products
Gene Report for G00003802 - Genes2Cognition Neuroscience Research Programme
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. |...
Trpm1 Mouse Gene Details | transient receptor potential cation channel, subfamily M, member 1 | International Mouse Phenotyping...
Infantile33
- Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. (wikipedia.org)
- Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. (wikipedia.org)
- citation needed] Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. (wikipedia.org)
- Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a related disorder called pantothenate kinase-associated neurodegeneration. (wikipedia.org)
- Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder. (wikipedia.org)
- citation needed] A few individuals with infantile neuroaxonal dystrophy have not been found to have mutations in the PLA2G6 gene. (wikipedia.org)
- citation needed] Mutations in the NAGA gene, resulting in alpha-N-acetylgalactosaminidase deficiency, cause an infantile neuroaxonal dystrophy known as Schindler disease. (wikipedia.org)
- In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. (wikipedia.org)
- Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. (wikipedia.org)
- citation needed] Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the optic nerve are characteristic of infantile neuroaxonal dystrophy. (wikipedia.org)
- citation needed] Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. (wikipedia.org)
- In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. (wikipedia.org)
- The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown. (medlineplus.gov)
- Infantile neuroaxonal dystrophy is a very rare disorder. (medlineplus.gov)
- Just after her second birthday, genetic testing confirmed Ariya's diagnosis of Infantile Neuroaxonal Dystrophy (INAD). (jax.org)
- 2. Aicardi J, Castelein P - Infantile neuroaxonal dystrophy. (scielo.br)
- 5. Elleder M, Jirasek A - New enzymatic findings in infantile neuroaxonal dystrophy. (scielo.br)
- 6. Herman MM, Huntterlocher PR, Benson KG - Electron microscopic observations in infantile neuroaxonal dystrophy. (scielo.br)
- PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). (beds.ac.uk)
- it is also referred to as infantile neuroaxonal dystrophy (INAD). (beds.ac.uk)
- UCLB spinout Bloomsbury Genetic Therapies Limited has received Orphan Drug Designations (ODD) from the US Food and Drug Administration (FDA) and the European Commission (EC) for BGT-INAD, an investigational gene therapy for the treatment of Infantile Neuroaxonal Dystrophy (INAD). (ucltf.co.uk)
- Both children have a rare, terminal illness called Infantile Neuroaxonal Dystrophy. (newschannel5.com)
- Infantile neuroaxonal dystrophy - Cerebellar atrophy is common. (logicalimages.com)
- Two affected sibs, homozygotes for E325K, are severely affected and have the signs and symptoms of infantile neuroaxonal dystrophy, but prominent vacuolisation is lacking. (bmj.com)
- At least 50 mutations in the PLA2G6 gene have been identified in people with infantile neuroaxonal dystrophy, a progressive neurological disorder that causes intellectual disability and movement problems. (encyclopedia.pub)
- Atypical neuroaxonal dystrophy (atypical NAD) is a disorder with signs and symptoms that are similar to those of infantile neuroaxonal dystrophy but that occur later and progress more slowly. (encyclopedia.pub)
- Both of these later-onset conditions are caused by PLA2G6 gene mutations that are believed to have a less severe effect on PLA2 group VI enzyme function than the mutations that cause infantile neuroaxonal dystrophy. (encyclopedia.pub)
- Catalytic function ofPLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophybut not dystonia-parkinsonism. (encyclopedia.pub)
- It is now evident from improvements noted in this Huntington model, a placebo-controlled phase 1/2 disease clinical trial in Friedreich's ataxia, continuing improvement in two Expanded Access subjects with the strictly progressive, fatal disease, infantile neuroaxonal dystrophy, and dozens of specific animal and cell models of diseases, that lipid peroxidation is a validated, druggable target across many diseases of neurodegeneration," Dr Shchepinov added. (hcplive.com)
- Clearance from the US Food and Drug Administration for a phase 2/3 clinical trial investigating RT001 as a treatment for infantile neuroaxonal dystrophy (INAD) was also recently received this past June. (hcplive.com)
- Riley and Harrison have a rare, terminal disease called Infantile Neuroaxonal Dystrophy (INAD). (blogspot.com)
- By the time Harrison was almost a year old, Riley and Harrison had been diagnosed with a very rare terminal disease called infantile Neuroaxonal dystrophy. (blogspot.com)
- We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A 2 , in NBIA, INAD and the related Karak syndrome. (elsevierpure.com)
Atypical Neuroaxonal Dystrophy2
- Atypical neuroaxonal dystrophy (atypical NAD). (beds.ac.uk)
- PLA2G6 gene mutations can also cause atypical neuroaxonal dystrophy and PLA2G6 -related dystonia-parkinsonism, which are conditions in which deterioration of neurological function (neurodegeneration) occurs later in life. (encyclopedia.pub)
PLA2G61
- Mutations in PLA2G6 (PARK14) cause neurodegenerative disorders in humans, including autosomal recessive neuroaxonal dystrophy and early-onset parkinsonism. (nih.gov)
Disorder1
- In 2007, at just 4 years of age, Ainsley Rossiter was diagnosed with neuroaxonal dystrophy, a rare, degenerative, and terminal developmental disorder usually affecting children between the ages of 18 months and 6 years. (austinfitmagazine.com)
Disease3
- Neuroaxonal Dystrophy (Spanish water dog type) is an inherited progressive neurological disease affecting Spanish water dogs. (pawprintgenetics.com)
- Neuroaxonal dystrophy (Spanish water dog type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
- Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. (elsevierpure.com)
Symptoms1
- Symptoms for Neuroaxonal Dystrophy has not been added yet. (rareshare.org)
Muscular dystrophy1
- Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. (neurologyindia.com)
Genetic1
- Genetic testing of the TECPR2 gene in Spanish water dogs will reliably determine whether a Spanish water dog is a genetic Carrier of neuroaxonal dystrophy (Spanish water dog type). (pawprintgenetics.com)
Synonyms1
- Synonyms for Neuroaxonal Dystrophy has not been added yet. (rareshare.org)
Gene associated1
- The Mutation of the TECPR2 gene associated with neuroaxonal dystrophy (Spanish water dog type) has been identified in Spanish water dogs, although its overall frequency in this breed is unknown. (pawprintgenetics.com)
Deficiency1
- The newly identified patient is consanguineous with the first patients reported with alpha-NAGA deficiency and neuroaxonal dystrophy and they all had the alpha-NAGA genotype E325K/E325K. (bmj.com)
Childhood1
- 8. Malmstron-Groth AG, Kristnes NK - Neuroaxonal dystrophy in childhood. (scielo.br)
Diseases1
- To young horses, the diseases might include myodegenration, dystrophy and myeloecephalopathy. (justformyhorse.com)
Infantile39
- What is infantile neuroaxonal dystrophy (INAD)? (nih.gov)
- Infantile neuroaxonal dystrophy (INAD) is a rare, inherited disorder of the body's nervous system. (nih.gov)
- Who is more likely to get infantile neuroaxonal dystrophy? (nih.gov)
- How is infantile neuroaxonal dystrophy diagnosed and treated? (nih.gov)
- How can I or my loved one help improve care for people with infantile neuroaxonal dystrophy? (nih.gov)
- Where can I find more information about infantile neuroaxonal dystrophy? (nih.gov)
- Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. (nih.gov)
- Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern. (nih.gov)
- When Do Symptoms of Infantile neuroaxonal dystrophy Begin? (nih.gov)
- Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. (wikipedia.org)
- Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. (wikipedia.org)
- citation needed] Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. (wikipedia.org)
- Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a related disorder called pantothenate kinase-associated neurodegeneration. (wikipedia.org)
- Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder. (wikipedia.org)
- citation needed] A few individuals with infantile neuroaxonal dystrophy have not been found to have mutations in the PLA2G6 gene. (wikipedia.org)
- citation needed] Mutations in the NAGA gene, resulting in alpha-N-acetylgalactosaminidase deficiency, cause an infantile neuroaxonal dystrophy known as Schindler disease. (wikipedia.org)
- In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. (wikipedia.org)
- Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. (wikipedia.org)
- citation needed] Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the optic nerve are characteristic of infantile neuroaxonal dystrophy. (wikipedia.org)
- citation needed] Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. (wikipedia.org)
- In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. (wikipedia.org)
- The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown. (medlineplus.gov)
- Infantile neuroaxonal dystrophy is a very rare disorder. (medlineplus.gov)
- Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. (nih.gov)
- Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. (nih.gov)
- Infantile neuroaxonal dystrophy is a rare neurological disorder that is universally fatal with life expectancy under 10 years. (nih.gov)
- A 10-year-old boy with infantile neuroaxonal dystrophy and severe neuromuscular scoliosis underwent posterior spinal fusion following halo traction. (nih.gov)
- Infantile neuroaxonal dystrophy presents several perioperative challenges including concerns for difficult intubation and respiratory dysfunction. (nih.gov)
- Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report. (nih.gov)
- A case of infantile neuroaxonal dystrophy of neonatal onset. (nih.gov)
- PLAN to C0270724 (preferred name Infantile Neuroaxonal Dystrophy) and wishes to exclude them from MetaMap output. (nih.gov)
- Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. (bvsalud.org)
- Here we describe three patients with different PLAN phenotypes, two presented with infantile neuroaxonal dystrophy (INAD) and one with dystonia-parkinsonism. (nih.gov)
- Work on a gene therapy for Infantile Neuroaxonal Dystrophy, called INAD, got a big boost in October when a London biotech company announced its intentions to help bring the treatment to market. (nbiadisorders.org)
- PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). (beds.ac.uk)
- This Saturday's game will be an Infantile Neuroaxonal Dystrophy or INAD Awareness charity game in honor of eight-year-old Grace Herschelman of Hillsboro, who is battling the rare genetic disorder. (wlds.com)
- From noticing the first symptoms, the journey to a diagnosis, and the day-to-day care and support, Wendy Loh shares her daughter, Amelia's story of living with INAD ( Infantile Neuroaxonal Dystrophy ). (honeykidsasia.com)
- Amelia is the first person in Singapore to be diagnosed with an extremely rare disorder, Infantile Neuroaxonal Dystrophy (INAD), which affects only 150 children worldwide. (honeykidsasia.com)
- Several previous studies from our lab and others had reported comparable increases in these metabolites in patients and fly models of other progressive neurodegenerative disorders such as Fredreich's Ataxia, Infantile Neuroaxonal Dystrophy, Gaucher's disease, and Parkinson's disease. (texaschildrens.org)
Degenerative Myeloencephalopathy2
- UC Davis researchers studying equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) use ultrasound-guided needle CSF samples for a biomarker test. (equimanagement.com)
- Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is one of the top three causes of spinal ataxia in horses, and a biomarker test is already available at the UC-Davis Veterinary Hospital. (equimanagement.com)
Gene1
- Dr. Finno is interested in determining the molecular pathogenesis of neuroaxonal dystrophy that is associated with a mutation of the gene encoding alpha tocopherol (the most biologically active form of vitamin E) transfer protein (TTPA). (nih.gov)
Diseases1
- Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. (bvsalud.org)
Frequency1
- The frequency of neuroaxonal dystrophy in the superior mesenteric sympathetic ganglia of rats with untreated 8-mo STZ-D increased sevenfold compared with that in age-matched controls. (diabetesjournals.org)
Developmental1
- She notes that this experience "lit a fire" in her to identify the developmental mechanisms of neuroaxonal dystrophy and the role played by vitamin E in this disease process. (nih.gov)
Progressive1
- Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. (beds.ac.uk)
Severe1
- Neuroaxonal Dystrophy (Fetal-onset, FNAD) is a severe, lethal disease. (dogwellnet.com)
Found1
- Animals chronically maintained on a diet containing 50% galactose, however, did not develop neuroaxonal dystrophy in excess of that found in untreated age-matched control rats. (diabetesjournals.org)