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Ann Neurol. 2005 Aug;58(2):337-40.

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

Author information

1
Department of Physical Medicine and Rehabilitation, Seinäjoki Central Hospital, Seinäjoki, Finland. maria.rantamaki@epshp.fi

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.

PMID:
16049925
DOI:
10.1002/ana.20555
[Indexed for MEDLINE]

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