Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
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.
McHugh
John C
JC
Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland. drjohnmchugh@ireland.com
Lonergan
Roisin
R
Howley
Rachel
R
O'Rourke
Killian
K
Taylor
Robert W
RW
Farrell
Michael
M
Hutchinson
Michael
M
Connolly
Sean
S
D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D018450:Disease Progression; D004401:Dysarthria / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D035781:Siblings
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human