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.
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Authors | Maria T Rantamäki, Heidi K Soini, Saara M Finnilä, Kari Majamaa, Bjarne Udd |
Journal | Annals of neurology
(Ann Neurol)
Vol. 58
Issue 2
Pg. 337-40
(Aug 2005)
ISSN: 0364-5134 [Print] United States |
PMID | 16049925
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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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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