Update on degenerative ataxias

Curr Opin Neurol. 2011 Aug;24(4):339-45. doi: 10.1097/WCO.0b013e32834875ba.

Abstract

Purpose of review: Degenerative ataxias are a heterogeneous group of disorders that are clinically characterized by progressive ataxia. They can be subdivided into three major groups: the acquired ataxias, which are due to exogenous or endogenous nongenetic causes, the hereditary ataxias, and the nonhereditary degenerative ataxias. On the basis of a review of the literature published in 2009 and 2010, this review gives an update of the most recent developments in the field of ataxia.

Recent findings: Using advanced methods of molecular genetic analysis, novel genes for recessive and dominant ataxias were identified. Recent imaging studies in dominantly inherited spinocerebellar ataxias (SCAs) focussed on the analysis of connectivity in the brain. Novel clinical assessment methods were developed and validated in large patient cohorts. Although a phase 3 trial of idebenone in Friedreich ataxia (FRDA) failed, a smaller phase 2 trial of riluzole in a mixed population of ataxia patients suggested a possible antiataxic action of this compound.

Summary: Recent molecular advances underline the diversity of degenerative ataxias. With the progress in the development of clinical assessment methods for ataxia, the methodological requirements to run large interventional trials are now met.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ataxia / etiology
  • Ataxia / genetics
  • Ataxia / pathology*
  • Ataxia / physiopathology*
  • Clinical Trials as Topic
  • Diagnostic Imaging
  • Humans
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / pathology*
  • Neurodegenerative Diseases / physiopathology*