Mitochondrial ataxias

Can J Neurol Sci. 2009 Sep;36(5):543-53. doi: 10.1017/s0317167100008027.

Abstract

Mitochondrial disorders (MIDs) are an increasingly recognized condition. The second most frequently affected organ in MIDs is the central nervous system. One of the most prevalent clinical CNS manifestations of MIDs is ataxia. Ataxia may be even the dominant manifestation of a MID. This is why certain MIDs should be included in the classification of heredoataxias or at least considered as differentials of classical heredoataxias. MIDs due to mutations of the mitochondrial DNA, which develop ataxia include the MERRF, NARP, MILS, or KSS syndrome. More rarely, ataxia may be a feature of MELAS, LHON, PS, MIDD, or MSL. MIDs due to mutations of the nuclear DNA, which develop ataxia include LS, SANDO, SCAE, AHS, XSLA/A, IOSCA, MIRAS, MEMSA, or LBSL syndrome. More rarely ataxia can be found in AD-CPEO, AR-CPEO, MNGIE, DIDMOAD, CoQ-deficiency, ADOAD, DCMA, or PDC-deficiency. MIDs most frequently associated with ataxia are the non-syndromic MIDs. Syndromic and non-syndromic MIDs with ataxia should be delineated from classical heredoataxias to initiate appropriate symptomatic or supportive treatment.

Publication types

  • Review

MeSH terms

  • Ataxia / diagnosis
  • Ataxia / epidemiology
  • Ataxia / genetics*
  • DNA, Mitochondrial / genetics*
  • Humans
  • Mitochondria / genetics*
  • Mutation / genetics*

Substances

  • DNA, Mitochondrial