[Peripheral Neuropathy in RFC1 CANVAS/Spectrum Disorders]

Brain Nerve. 2022 Nov;74(11):1281-1286. doi: 10.11477/mf.1416202228.
[Article in Japanese]

Abstract

Recently, the biallelic expansion of an AAGGG repeat in RFC1 was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome. This mutation has also been reported in more selected nervous disorders, including pure sensory axonal polyneuropathy. Thus, the multisystem disorders caused by this mutation are now considered RFC1-related spectrum disorders. Here, we review the previous reports about RFC1-related spectrum disorders from the aspect of neuropathy.

Publication types

  • Review
  • English Abstract

MeSH terms

  • Bilateral Vestibulopathy*
  • Cerebellar Ataxia*
  • Humans
  • Peripheral Nervous System Diseases* / genetics
  • Syndrome