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Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation |
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| Authors: | John C McHugh MRCPI Roisin Lonergan MRCPI Rachel Howley BSc Killian O'Rourke MD Robert W Taylor PhD Michael Farrell FRCPath Michael Hutchinson FRCPI Sean Connolly FRCPI |
| Institution: | 1. Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland;2. Department of Clinical Neurophysiology, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland;3. Neuropathology Laboratory, Beaumont Hospital, Dublin, Ireland;4. Mitochondrial Research Group, Institute of Ageing and Health, Medical School, Newcastle University, Newcastle upon Tyne, UK |
| 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, 2010 |
| Keywords: | dysarthria mitochondrial disease ophthalmoparesis polymerase gamma SANDO sensory ataxic neuropathy |