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

Abstract
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.
AuthorsMaria T Rantamäki, Heidi K Soini, Saara M Finnilä, Kari Majamaa, Bjarne Udd
JournalAnnals of neurology (Ann Neurol) Vol. 58 Issue 2 Pg. 337-40 (Aug 2005) ISSN: 0364-5134 [Print] United States
PMID16049925 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Mitochondrial
Topics
  • Adult
  • Aged
  • Ataxia (genetics)
  • DNA Mutational Analysis (methods)
  • DNA, Mitochondrial (genetics)
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Point Mutation
  • Polyneuropathies (genetics)

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