ePrints

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

Lookup NU author(s): Professor Robert Taylor

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

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. Muscle Nerve 41: 265-269, 2010

Publication metadata

Author(s): McHugh JC, Lonergan R, Howley R, O'Rourke K, Taylor RW, Farrell M, Hutchinson M, Connolly S

Publication type: Article

Publication status: Published

Journal: Muscle & Nerve

Year: 2010

Volume: 41

Issue: 2

Pages: 265-269

ISSN (print): 0148-639X

ISSN (electronic): 1097-4598

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/mus.21494

DOI: 10.1002/mus.21494

Altmetrics

Funding

Share