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

K Craig, H R Elliott, S M Keers, C Lambert, A Pyle, T D Graves, C Woodward, M G Sweeney, M B Davis, M G Hanna, P F Chinnery

Research output: Contribution to journalArticle (Academic Journal)peer-review

23 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)797-9
Number of pages3
JournalJournal of Medical Genetics
Issue number12
Publication statusPublished - Dec 2007


  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease
  • Cohort Studies
  • DNA, Mitochondrial
  • Dysarthria
  • Female
  • Genetic Heterogeneity
  • Hereditary Sensory and Motor Neuropathy
  • Humans
  • Middle Aged
  • Mitochondrial Diseases
  • Mitochondrial Proton-Translocating ATPases
  • Mutation, Missense
  • Ocular Motility Disorders
  • Paresis
  • Pedigree
  • Periodicity
  • Point Mutation
  • Spinocerebellar Degenerations


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