- Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
Neurology (2014-04-11)
Chantal Depondt, Simona Donatello, Nicolas Simonis, Myriam Rai, Roxane van Heurck, Marc Abramowicz, Marc D'Hooghe, Massimo Pandolfo
PMID24719489
ABSTRAKT
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.