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Article

Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.

Journal of neurology - 1 Sept 2024

Schaub Annalisa, Erdmann Hannes, Scholz Veronika, Timmer Manuela, Cordts Isabell, Günther Rene, Reilich Peter, Abicht Angela, Schöberl Florian

Abstract excerpt

Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) as well as of one of the most common causes of adult-onset ataxia. In the meantime, the phenotypic spectrum has expanded massively and now includes mimics of multiple system atrophy or parkinsonism. After identifying a patient with a clinical...

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Identifiers

PMID: 38916676
DOI: 10.1007/s00415-024-12519-6
PMCID: PMC11377604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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