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Results 1 - 4 of 4 for Spinocerebellar ataxia type 17
  1. TBP gene 
    ... as Huntington's disease-like 4 (HDL4) or spinocerebellar ataxia type 17 (SCA17). The features of this disorder vary widely ... X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16(2): ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  2. Huntington's disease-like syndrome 
    ... gene are responsible for HDL4 (also known as spinocerebellar ataxia type 17). The genetic cause of HDL3 is unknown.The ... Registry: Huntington disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 National Organization for Rare Disorders (NORD) HUNTINGTON DISEASE- ...
    https://medlineplus.gov/.../huntingtons-disease-like-syndrome - Genetics
  3. Infantile-onset spinocerebellar ataxia 
    ... Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 PubMed Finsterer J. Ataxias with autosomal, X- ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  4. TWNK gene 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics