Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

Hdl Handle:
http://hdl.handle.net/10147/207657
Title:
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
Authors:
McHugh, John C; Lonergan, 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.com
Citation:
Muscle Nerve. 2010 Feb;41(2):265-9.
Journal:
Muscle & nerve
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207657
DOI:
10.1002/mus.21494
PubMed ID:
19813183
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.
Language:
eng
MeSH:
Ataxia/diagnosis/*genetics; DNA-Directed DNA Polymerase/*genetics; Disease Progression; Dysarthria/diagnosis/*genetics; Female; *Homozygote; Humans; Male; Middle Aged; Mutation/*genetics; Ophthalmoplegia/diagnosis/*genetics; Prognosis; *Siblings
ISSN:
1097-4598 (Electronic); 0148-639X (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorMcHugh, John Cen_GB
dc.contributor.authorLonergan, Roisinen_GB
dc.contributor.authorHowley, Rachelen_GB
dc.contributor.authorO'Rourke, Killianen_GB
dc.contributor.authorTaylor, Robert Wen_GB
dc.contributor.authorFarrell, Michaelen_GB
dc.contributor.authorHutchinson, Michaelen_GB
dc.contributor.authorConnolly, Seanen_GB
dc.date.accessioned2012-02-01T10:34:10Z-
dc.date.available2012-02-01T10:34:10Z-
dc.date.issued2012-02-01T10:34:10Z-
dc.identifier.citationMuscle Nerve. 2010 Feb;41(2):265-9.en_GB
dc.identifier.issn1097-4598 (Electronic)en_GB
dc.identifier.issn0148-639X (Linking)en_GB
dc.identifier.pmid19813183en_GB
dc.identifier.doi10.1002/mus.21494en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207657-
dc.description.abstractTwo 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAtaxia/diagnosis/*geneticsen_GB
dc.subject.meshDNA-Directed DNA Polymerase/*geneticsen_GB
dc.subject.meshDisease Progressionen_GB
dc.subject.meshDysarthria/diagnosis/*geneticsen_GB
dc.subject.meshFemaleen_GB
dc.subject.mesh*Homozygoteen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshMutation/*geneticsen_GB
dc.subject.meshOphthalmoplegia/diagnosis/*geneticsen_GB
dc.subject.meshPrognosisen_GB
dc.subject.mesh*Siblingsen_GB
dc.titleSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.en_GB
dc.contributor.departmentDepartment of Neurology, St. Vincent's University Hospital, Dublin, Ireland., drjohnmchugh@ireland.comen_GB
dc.identifier.journalMuscle & nerveen_GB
dc.description.provinceLeinster-

Related articles on PubMed

All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.