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.
Keogh, M. J., Steele, H., Douroudis, K., Pyle, A., Duff, J., Hussain, R., … Chinnery, P. F. (2015). Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia. Journal of Neurology, 262(8), 1822–1827. https://doi.org/10.1007/s00415-015-7772-x