doi: 10.1212/WNL.0000000000000416.
Epub 2014 Apr 9.
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations
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- PMID: 24719489
- DOI: 10.1212/WNL.0000000000000416
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Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations
Neurology.
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Abstract
Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.
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