Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

Neurology. 2013 Feb 5;80(6):600-1. doi: 10.1212/WNL.0b013e3182815529. Epub 2013 Jan 16.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology
  • Child
  • Cytoskeletal Proteins
  • Female
  • Humans
  • Motor Neuron Disease / complications
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / physiopathology
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Young Adult

Substances

  • Cytoskeletal Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • SYNE1 protein, human