Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2

Clin Neurol Neurosurg. 2015 Jan;128:44-6. doi: 10.1016/j.clineuro.2014.10.024. Epub 2014 Nov 6.
No abstract available

Keywords: AOA2; Ataxia early onset; Neuropathy; Novel mutations; The SETX gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Helicases
  • Humans
  • Male
  • Multifunctional Enzymes
  • Mutation
  • RNA Helicases / genetics*
  • Spinocerebellar Ataxias / congenital
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / physiopathology
  • Young Adult

Substances

  • Multifunctional Enzymes
  • SETX protein, human
  • DNA Helicases
  • RNA Helicases

Supplementary concepts

  • Spinocerebellar ataxia, autosomal recessive 1