Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation

Ann Neurol. 2005 Aug;58(2):337-40. doi: 10.1002/ana.20555.


The 8993T-->C mutation in mitochondrial DNA (mtDNA) has been described previously to be associated with infantile- or childhood-onset phenotypes, ranging from Leigh's syndrome to neurogenic weakness, ataxia, and retinitis pigmentosa syndrome. We report a kindred with adult-onset slowly progressive ataxia and polyneuropathy and with the heteroplasmic 8993T-->C mutation. Our findings suggest that the 8993T-->C mtDNA mutation should be considered in the differential diagnosis of nondominant adult-onset ataxia and axonal neuropathy.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Ataxia / genetics*
  • DNA Mutational Analysis / methods
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Point Mutation
  • Polyneuropathies / genetics*


  • DNA, Mitochondrial