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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 
    ... Registry: Huntington disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 Huntington disease-like 2 National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/huntingtons-disease-like - Genetics
  5. TBP gene 
    ... G, Kapaki E. From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. Case Rep Neurol Med. 2014;2014: ... O. Clinical features and neuropathology of autosomal dominant spinocerebellar ... of the Huntington disease-like presentation in a SCA17 family. Neurology. 2006 ...
    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 
    ... spinocerebellar ataxia National ... anaemia 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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