| Literature DB >> 33103729 |
Carolin K Scriba1,2,3, Sarah J Beecroft1,2, Joshua S Clayton1,2, Andrea Cortese4,5, Roisin Sullivan4, Wai Yan Yau4, Natalia Dominik4, Miriam Rodrigues6, Elizabeth Walker6, Zoe Dyer6, Teddy Y Wu7, Mark R Davis3, David C Chandler8, Ben Weisburd9, Henry Houlden4, Mary M Reilly4, Nigel G Laing1,2, Phillipa J Lamont10, Richard H Roxburgh4,11, Gianina Ravenscroft1,2.
Abstract
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected individuals. This motif was associated with additional clinical features including fasciculations and elevated serum creatine kinase. These features have not previously been described in individuals with genetically-confirmed CANVAS. Haplotype analysis showed our patients shared the same core haplotype as previously published, supporting the possibility of a single origin of the RFC1 disease allele. We analysed data from >26 000 genetically diverse individuals in gnomAD to show enrichment of (ACAGG) in non-European populations.Entities:
Keywords: neuropathy; sensory neuropathy; cerebellar ataxia; vestibular areflexia syndrome; CANVAS; RFC1; repeat expansion
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Year: 2020 PMID： 33103729 PMCID： PMC7780484 DOI： 10.1093/brain/awaa263
Source DB: PubMed Journal: Brain ISSN： 0006-8950 Impact factor: 13.501