Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.

ABSTRACT:

Background

Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up 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.

Methods

Genetic screening study of the MTATP6 gene in 64 pedigrees with unexplained ataxia, and case series of two families who had MTATP6 mutations.

Results

Three pedigrees had mutations in MTATP6, two of which have not been repor

SUBMITTER: Pfeffer G 

PROVIDER: S-EPMC4034166 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature