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POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

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.

Publication metadata

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

Year: 2008

Volume: 65

Issue: 1

Pages: 133-136

ISSN (print): 0003-9942

ISSN (electronic): 1538-3687

Publisher: American Medical Association


DOI: 10.1001/archneurol.2007.4

PubMed id: 18195151


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Funder referenceFunder name
G108/638Medical Research Council