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Results 1 - 6 of 6 for Spinocerebellar ataxia 17
  1. Huntington's disease-like syndrome 
    ... LIKE 1; HDL1 HUNTINGTON DISEASE-LIKE 3; HDL3 SPINOCEREBELLAR ATAXIA 17; SCA17 HUNTINGTON DISEASE-LIKE 2; HDL2 PubMed Schneider ...
    https://medlineplus.gov/.../huntingtons-disease-like-syndrome - Genetics
  2. 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
  3. Infantile-onset spinocerebellar ataxia 
    ... 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/.../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
  5. Boucher-Neuhäuser syndrome 
    ... with hypogonadism and choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, and ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  6. Friedreich ataxia 
    ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ... J Neurol. 2009 Mar;256 Suppl 1:9-17. doi: 10.1007/s00415-009-1003-2. Citation ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics