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Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation

Lookup NU author(s): Dr Hannah Elliott, Claire Lambert, Dr Angela Pyle, Professor Patrick Chinnery

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Abstract

The m.8993T→C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults, is usually normal in patients with MTATP6 mutations. This raises the possibility that these cases have been missed in the past. We therefore studied 308 patients with unexplained ataxia and 96 patients with suspected Charcot-Marie-Tooth disease to determine whether the m.8993T→C MTATP6 mutation is common in unexplained inherited ataxia and/or polyneuropathy. We identified a three-generation family with the m.8993T→C mutation of mtDNA. One subject had episodic ataxia (EA) and transient hemipareses, broadening the phenotype. However, no further cases were identified in an additional cohort of 191 patients with suspected EA. In conclusion, m.8993T→C MTATP6 should be considered in patients with unexplained ataxia, CMT or EA, but cases are uncommon.

Publication metadata

Author(s): Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2007

Volume: 44

Issue: 12

Pages: 797-799

Print publication date: 01/12/2007

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/jmg.2007.052902

DOI: 10.1136/jmg.2007.052902

PubMed id: 18055910

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