C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

J Neurol Sci. 2019 Jul 15:402:118-120. doi: 10.1016/j.jns.2019.05.001. Epub 2019 May 9.
No abstract available

Keywords: Chilaiditi syndrome; Motor neuron disease; SYNE1; Spinocerebellar ataxia, autosomal recessive 8.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cytoskeletal Proteins / genetics*
  • Disease Progression
  • Female
  • Humans
  • Middle Aged
  • Motor Neuron Disease / genetics*
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Spinocerebellar Ataxias / complications*
  • Young Adult

Substances

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

Supplementary concepts

  • Spinocerebellar Ataxia, Autosomal Recessive 8