Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion

Clin Neurophysiol. 2022 Feb:134:34-36. doi: 10.1016/j.clinph.2021.11.005. Epub 2021 Dec 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bilateral Vestibulopathy / genetics*
  • Cerebellar Ataxia / genetics*
  • DNA Repeat Expansion*
  • Electromyography
  • Humans
  • Male
  • Middle Aged
  • Neuromuscular Diseases / genetics*
  • Phenotype
  • Reduced Folate Carrier Protein / genetics*

Substances

  • Reduced Folate Carrier Protein
  • SLC19A1 protein, human