AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA OF ADULT ONSET DUE TO STUB1 MUTATIONS

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.(1