Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cerebellar Ataxia / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • STUB1 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Autosomal Recessive Cerebellar Ataxia Type 1