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Results 1 - 4 of 4 for Spinocerebellar "ataxia," autosomal recessive 22
  1. TPP1 gene 
    ... TPP1 gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition characterized by ... Tests of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder M, Dvorakova ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  2. Ataxia with oculomotor apraxia 
    ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  3. Friedreich ataxia 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  4. TWNK gene 
    ... with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. doi: ... by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics