Article
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
Annals of neurology - 1 Aug 2005
Rantamäki Maria T, Soini Heidi K, Finnilä Saara M, Majamaa Kari, Udd Bjarne
Abstract excerpt
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...
Topics
- Adult
- Aged
- Ataxia
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Point Mutation
- Polyneuropathies