Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

作者：Pfeffer Gerald; Blakely Emma L; Alston Charlotte L; Hassani Adam; Boggild Mike; Horvath Rita; Samuels David C; Taylor Robert W; Chinnery Patrick F^*

来源：Journal of Neurology Neurosurgery and Psychiatry, 2012, 83(9): 883-886.

DOI：10.1136/jnnp-2012-302568

Background Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to similar to 50% cases. Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood. The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients. %26lt;br%26gt;Methods Genetic screening study of the MTATP6 gene in 64 pedigrees with unexplained ataxia, and case series of two families who had MTATP6 mutations. %26lt;br%26gt;Results Three pedigrees had mutations in MTATP6, two of which have not been reported previously and are detailed in this report. These families had the m.9185T%26gt;C and m.9035T%26gt;C mutations, respectively, which have not previously been associated with adult-onset cerebellar syndromes. Other investigations including muscle biopsy and respiratory chain enzyme activity were non-specific or normal. %26lt;br%26gt;Conclusions MTATP6 sequencing should be considered in the workup of undiagnosed ataxia, even if other investigations do not suggest a mitochondrial DNA disorder.

• 出版日期2012-9
• 单位河北医科大学