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Episodic ataxia and hemiplegia caused by the 8993TC mitochondrial DNA mutation

¹ Mitochondrial Research Group, Institute of Neurology, Queen Square, London, UK
² Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK
³ Institute of Human Genetics, Newcastle University, UK

Correspondence to:
Professor P F Chinnery, M41014, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; p.f.chinnery{at}ncl.ac.uk]

ABSTRACT
The m.8993TC 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.8993TC MTATP6 mutation is common in unexplained inherited ataxia and/or polyneuropathy. We identified a three-generation family with the m.8993TC 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.8993TC MTATP6 should be considered in patients with unexplained ataxia, CMT or EA, but cases are uncommon.

Abbreviations: BSN, bilateral striatal necrosis; CMT, Charcot–Marie–Tooth; EA, episodic ataxia; EA2, episodic ataxia type 2; FHM, familial hemiplegic migraine; LS, Leigh syndrome; mtDNA, mitochondrial DNA; NARP, neurogenic weakness with ataxia and retinitis pigmentosa