Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
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Rantamaki MT, Soini HK, Finnila SM, Majamaa K, Udd B
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
Ann Neurol. 2005 Aug;58(2):337-40.
- PubMed ID
- 16049925 [ View in PubMed]
- 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.