title: Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
abstract: 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.
authors.affiliation: Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland. drjohnmchugh@ireland.com
authors.forename: John C
authors.initials: JC
authors.lastname: McHugh
authors.forename: Roisin
authors.initials: R
authors.lastname: Lonergan
authors.forename: Rachel
authors.initials: R
authors.lastname: Howley
authors.forename: Killian
authors.initials: K
authors.lastname: O'Rourke
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Michael
authors.initials: M
authors.lastname: Farrell
authors.forename: Michael
authors.initials: M
authors.lastname: Hutchinson
authors.forename: Sean
authors.initials: S
authors.lastname: Connolly
mesh_terms: 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
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human