Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
Authors
McHugh, John CLonergan, Roisin
Howley, Rachel
O'Rourke, Killian
Taylor, Robert W
Farrell, Michael
Hutchinson, Michael
Connolly, Sean
Affiliation
Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland., drjohnmchugh@ireland.comIssue Date
2012-02-01T10:34:10ZMeSH
Ataxia/diagnosis/*geneticsDNA-Directed DNA Polymerase/*genetics
Disease Progression
Dysarthria/diagnosis/*genetics
Female
*Homozygote
Humans
Male
Middle Aged
Mutation/*genetics
Ophthalmoplegia/diagnosis/*genetics
Prognosis
*Siblings
Metadata
Show full item recordCitation
Muscle Nerve. 2010 Feb;41(2):265-9.Journal
Muscle & nerveDOI
10.1002/mus.21494PubMed ID
19813183Abstract
Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene. The clinical course in both subjects was progression to severe disability. The enlarging spectrum of sensory ataxic neuropathies associated with mitochondrial DNA (mtDNA) instability and POLG mutations should be recognized and considered in the differential diagnosis of this unusual presentation.Language
engISSN
1097-4598 (Electronic)0148-639X (Linking)
ae974a485f413a2113503eed53cd6c53
10.1002/mus.21494
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