Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia / etiology*
  • Ataxia / genetics
  • Ataxia / pathology*
  • Cathepsin D / deficiency*
  • Cathepsin D / genetics
  • Family Health
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Muscle, Skeletal / pathology*
  • Mutation, Missense / genetics
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / pathology

Substances

  • CTSD protein, human
  • Cathepsin D