Identification of the SCA21 disease gene: remaining challenges and promising opportunities

Brain. 2014 Oct;137(Pt 10):2626-8. doi: 10.1093/brain/awu217.

Abstract

This scientific commentary refers to ‘TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment’, by Delplanque et al. (doi: 10.1093/brain/awu202).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Cognition Disorders / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mutation / physiology*
  • Spinocerebellar Degenerations / genetics*

Substances

  • Membrane Proteins
  • TMEM240 protein, human

Supplementary concepts

  • Spinocerebellar ataxia 21