J Mov Disord.
2022 May;15(2):167-170. 10.14802/jmd.21117.
Expanding the Clinical Spectrum of RFC1 Gene Mutations
- Affiliations
-
- 1Department of Clinical Neurological Sciences, University Hospital, London, Canada
- KMID: 2530224
- DOI: http://doi.org/10.14802/jmd.21117
Abstract
- 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 progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. We present a patient with a genetically confirmed intronic repeat expansion in the RFC1 gene with a symptom complex not described previously.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
- Mutation spectrum of NF1 gene in Korean unrelated patients with neurofibromatosis 1: Six novel pathogenic variants
- Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
- Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon–Lefevre Syndrome
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications
