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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
- Source :
-
Journal of neurology [J Neurol] 2021 Sep; Vol. 268 (9), pp. 3337-3343. Date of Electronic Publication: 2021 Mar 05. - Publication Year :
- 2021
-
Abstract
- Objective: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion repeat in the RFC1 gene. Our objective was to assess its prevalence in a French cohort of patients with idiopathic sporadic late-onset ataxia (ILOA), idiopathic early-onset ataxia (IEOA), or Multiple System Atrophy of Cerebellar type (MSA-C).<br />Methods: 163 patients were recruited in 3 French tertiary centers: 100 ILOA, 21 IEOA, and 42 patients with possible or probable MSA-C.<br />Results: A pathogenic biallelic RFC1 AAGGG(n) repeat expansion was found in 15 patients: 15/100 in the ILOA group, but none in the IEOA and MSA-C subgroups. 14/15 patients had a CANVAS phenotype. Only 1/15 had isolated cerebellar ataxia, but also shorter biallelic expansions. Two RFC1 AAGGG(n) alleles were found in 78% of patients with a CANVAS phenotype. In one post-mortem case, the pathophysiological involvement of cerebellum and medullar posterior columns was found.<br />Conclusion: Our study confirms the genetic heterogeneity of the CANVAS and that RFC1 repeat expansions should be searched for preferentially in case of unexplained ILOA associated with a sensory neuronopathy, but not particularly in patients classified as MSA-C.<br /> (© 2021. Springer-Verlag GmbH, DE part of Springer Nature.)
Details
- Language :
- English
- ISSN :
- 1432-1459
- Volume :
- 268
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Journal of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 33666721
- Full Text :
- https://doi.org/10.1007/s00415-021-10499-5