Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

ABSTRACT: Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underlying genetic basis is often considered, even in those without a family history. Here we apply whole exome sequencing to a cohort of 12 patients with late onset cerebellar ataxia. We show that 33% of 'idiopathic' cases harbor compound heterozygous mutations in known ataxia genes, including genes not included on multi-gene panels, or primarily associated with an ataxic presentation.

SUBMITTER: Keogh MJ 

PROVIDER: S-EPMC4539354 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature