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Results 1 - 10 of 128 for Progressive truncal ataxia
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  1. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  2. CACNA1A gene 
    ... variants. The major features of this condition include progressive ataxia, nystagmus, and impaired speech (dysarthria), most often beginning ... JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005 Jun ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. Dyssynergia Cerebellaris Myoclonica From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia.
    https://www.ninds.nih.gov/.../dyssynergia-cerebellaris-myoclonica - External Health Links
  4. FOLR1 gene 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  5. Cerebral folate transport deficiency 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  6. PRICKLE1 gene 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/genetics/gene/prickle1 - Genetics
  7. About Fragile X Syndrome From the National Institutes of Health (National Human Genome Research Institute)  
    Fragile X Syndrome/Start Here ... Fragile X Syndrome ... National Human Genome Research Institute ... From the National Institutes of Health ... Fragile X syndrome is an ...
    https://www.genome.gov/Genetic-Disorders/Fragile-X-Syndrome - External Health Links
  8. COQ8B gene 
    ... Smeets H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010 Aug;10(5):510- ...
    https://medlineplus.gov/genetics/gene/coq8b - Genetics
  9. Infantile-onset spinocerebellar ataxia 
    Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  10. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
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