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J Neurol Sci. 2012 Apr 15;315(1-2):160-3. doi: 10.1016/j.jns.2011.11.028. Epub 2011 Dec 12.

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

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  • 1Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. eino.palin@helsinki.fi

Abstract

We studied the genetic background of a family with SCA, showing dominant inheritance and anticipation. Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS. The healthy father was a heterozygous carrier for the same mutation. Recessively inherited MIRAS mutations should be tested in dominantly inherited SCAs cases of unknown cause, as the high carrier frequency of MIRAS may result in two independent introductions of the mutant allele in the family and thereby mimic dominant inheritance.

PMID:
22166854
DOI:
10.1016/j.jns.2011.11.028
[PubMed - indexed for MEDLINE]
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