Ontology highlight
ABSTRACT:
SUBMITTER: Kulshreshtha D
PROVIDER: S-EPMC9171309 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Kulshreshtha Dinkar D Ganguly Jacky J Jog Mandar M
Journal of movement disorders 20220322 2
Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus. This condition is termed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progre ...[more]