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Results 1 - 10 of 14 for spinocerebellar disease
  1. Spinocerebellar ataxia type 3 
    ... Joseph disease MJD SCA3 Genetic Testing Registry: Azorean disease Spinocerebellar ataxia type 3 National Organization for Rare Disorders ( ... the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/Machado-Joseph disease. Neurol India. 2009 Sep-Oct;57(5):578- ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-3 - Genetics
  2. Spinocerebellar ataxia type 1 
    ... HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  3. ATXN1 gene 
    ... HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  4. Huntington's disease-like syndrome 
    ... LIKE 1; HDL1 HUNTINGTON DISEASE-LIKE 3; HDL3 SPINOCEREBELLAR ATAXIA 17; SCA17 HUNTINGTON DISEASE-LIKE 2; HDL2 PubMed Schneider SA, Walker RH, ...
    https://medlineplus.gov/.../huntingtons-disease-like-syndrome - Genetics
  5. TBP gene 
    ... a progressive brain disorder known as Huntington's disease-like 4 (HDL4) or spinocerebellar ataxia type 17 (SCA17). The features of this disorder vary widely among affected individuals. The condition was first described ... including uncontrolled movements, emotional problems, and loss of ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  6. TPP1 gene 
    ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5): ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  7. Friedreich ataxia 
    ... Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, ... Genetic Testing Registry: Friedreich ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  8. Myoclonic epilepsy myopathy sensory ataxia 
    ... SCAE Spinocerebellar ataxia with epilepsy ... variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  9. TWNK gene 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia ... Copeland WC. Disease variants of the human mitochondrial DNA helicase encoded ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  10. X-linked sideroblastic anemia and ataxia 
    ... Organization for Rare Disorders (NORD) ... with ataxia: another mitochondrial disease? J Neurol Neurosurg Psychiatry. 2001 Jan;70(1): ...
    https://medlineplus.gov/.../x-linked-sideroblastic-anemia-and-ataxia - Genetics
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