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Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation
Author(s) -
McHugh John C.,
Lonergan Roisin,
Howley Rachel,
O'Rourke Killian,
Taylor Robert W.,
Farrell Michael,
Hutchinson Michael,
Connolly Sean
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21494
Subject(s) - ophthalmoparesis , dysarthria , ataxia , genetics , mutation , frameshift mutation , medicine , biology , audiology , gene , neuroscience
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. Muscle Nerve, 2010