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

Article Details

Citation

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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
ATP synthase subunit aP00846Details