ArticleJournal of neurology2021
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Article in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.Journal of applied genetics · 2026Article
- Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.Cerebellum (London, England) · 2025Article
- Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients withBrain communications · 2025Article
- Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy.Scientific reports · 2024Article
- Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype.ERJ open research · 2024Article
- Article
- RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.Movement disorders clinical practice · 2024Article
- Structural investigation of pathogenic RFC1 AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS.Nucleic acids research · 2024Article
- Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.Movement disorders clinical practice · 2024Article
- Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.Brain : a journal of neurology · 2023Article
- The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.Cerebellum (London, England) · 2023Article
- Truncating Variants inNeurology · 2023Article
- An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.American journal of human genetics · 2023Article
- Article
- Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.Journal of neurology · 2022Article
- Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.Journal of neurology · 2022Article
- Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.Journal of neurology · 2022Article
- Article
- Recessive cerebellar and afferent ataxias - clinical challenges and future directions.Nature reviews. Neurology · 2022Review
Corrections and comments
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Authors and funding
26 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveCerebellar 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).
methods163 patients were recruited in 3 French tertiary centers: 100 ILOA, 21 IEOA, and 42 patients with possible or probable MSA-C.
resultsA 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.
conclusionOur 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.
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