Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

M. J. Keogh, H. Steele, K. Douroudis, A. Pyle, J. Duff, R. Hussain, T. Smertenko, H. Griffin, M. Santibanez-Koref, R. Horvath, P. F. Chinnery*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1822-1827
Number of pages6
JournalJournal of Neurology
Volume262
Issue number8
DOIs
Publication statusPublished - 18 Aug 2015
Externally publishedYes

Keywords

  • Ataxia
  • Diagnosis
  • Next generation sequencing
  • Whole exome sequencing

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