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Lookup NU author(s): Joanna Stewart,
Dr Gavin Hudson,
Professor Robert Taylor,
Professor Patrick Chinnery
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Background: Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge. Objective: To determine the cause of axonal CMT type 2 in 3 siblings. Design: Case report. Setting: Academic research. Participants: Three siblings who subsequently developed profound cerebellar ataxia. Main Outcome Measures: Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase γ-1) gene, as well as screening of control subjects for POLG1 sequence variants. Results: Cytochrome c oxidase deficient fibers and multiple deletions of mitochondrial DNA were detected in skeletal muscle. Three compound heterozygous substitutions were detected in POLG1. Conclusion: Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia. ©2008 American Medical Association. All rights reserved.
Author(s): Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF
Publication type: Article
Publication status: Published
Journal: Archives of Neurology
ISSN (print): 0003-9942
ISSN (electronic): 1538-3687
Publisher: American Medical Association
PubMed id: 18195151
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