期刊
BRAIN
卷 143, 期 -, 页码 2904-2910出版社
OXFORD UNIV PRESS
DOI: 10.1093/brain/awaa263
关键词
sensory neuropathy; cerebellar ataxia; neuropathy; vestibular areflexia syndrome; CANVAS; RFC1; repeat expansion
资金
- Fred Liuzzi Foundation (TFLF) (Melbourne, Australia)
- Australian National Health and Medical Research Council (NHMRC) [APP1117510, APP1122952]
- Western Australian Department of Health Future Health's WA Merit Award
- NHMRC Project Grant [APP1080587]
- Margaret and Terry Orr Memorial Fund
- Medical Research Council [MR/179744]
- Fondazione CARIPLO [2019-1836]
- MRC Centre [G0601943]
- National Institutes of Neurological Diseases and Stroke
- office of Rare Diseases [U54NS065712]
- Ataxia UK
- MSA Trust
- MDUK
- The Muscular Dystrophy Association (MDA)
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- National Human Genome Research Institute
- National Eye Institute
- National Heart, Lung and Blood Institute [UM1 HG008900]
- National Human Genome Research Institute [R01 HG009141]
- MRC [G0601943, MR/T001712/1] Funding Source: UKRI
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 426 000 genetically diverse individuals in gnomAD to show enrichment of (ACAGG) in non-European populations.
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