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. 2014 May 13;82(19):1749-50.
doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations

Chantal Depondt  1 , Simona Donatello, Nicolas Simonis, Myriam Rai, Roxane van Heurck, Marc Abramowicz, Marc D'Hooghe, Massimo Pandolfo
Affiliations

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations

Chantal Depondt et al. Neurology. .

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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