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Results 1 - 5 of 5 for Spinocerebellar "ataxia," autosomal recessive 28
  1. Infantile-onset spinocerebellar ataxia 
    ... Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset ... maternal inheritance. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Citation on PubMed Finsterer ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  2. 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
  3. Boucher-Neuhäuser syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry ... hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - 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 ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. Ataxias and Cerebellar or Spinocerebellar Degeneration From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Friedreich Ataxia/Related Issues ... Friedreich Ataxia ... Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia ...
    https://www.ninds.nih.gov/...ebellar-or-spinocerebellar-degeneration - External Health Links