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Article

Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping.

Arquivos de neuro-psiquiatria - 1 Nov 2025

Fernandes André Aires, Alexandre Pedro L, Vedor Sofia, Figueiredo Rita, Marques Pedro, Braz Luís

Abstract excerpt

The syndrome defined by cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS) has been previously described as a cause of late-onset ataxia. With the discovery of biallelic expansion in the replication factor C subunit 1 (RFC1) gene as its underlying genetic cause, this syndrome and the broader gene disease became more clinically heterogeneous and one of the most common genetic causes of ataxia in...

Read the complete abstract on PubMed

Topics

Humans
Phenotype
Male
Female
Middle Aged
Retrospective Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Magnetic Resonance Imaging

Replication Protein C

Cerebellar Ataxia

Aged

Electromyography

Caloric Tests

Young Adult

Neurologic Examination

Source

Open in PubMed Open full text

Identifiers

PMID: 41145152
DOI: 10.1055/s-0045-1811723
PMCID: PMC12558705

Genes

RFC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

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Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping.PMID 41145152Read ↗

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Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS).Semantic proximity Read ↗

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