Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
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.
Rantamäki
Maria T
MT
Department of Physical Medicine and Rehabilitation, Seinäjoki Central Hospital, Seinäjoki, Finland. maria.rantamaki@epshp.fi
Soini
Heidi K
HK
Finnilä
Saara M
SM
Majamaa
Kari
K
Udd
Bjarne
B
D000328:Adult; D000368:Aged; D001259:Ataxia / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D011115:Polyneuropathies / Q000235:genetics*
D004272:DNA, Mitochondrial