ArticleJournal of neurology2021
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.
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 28 papers.
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Who cites it
28 citing papers in PubMed, 38 citations in OpenAlex.
- Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.Pain and therapy · 2026Review
- Cramps as the initial presentation of CANVAS/RFC1-related disorder.Journal of neuromuscular diseases · 2026Article
- Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study.Journal of neurology · 2026Article
- Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.Journal of applied genetics · 2026Article
- RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications.Journal of the peripheral nervous system : JPNS · 2026Observational
- Bi- and Mono-Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy.Annals of clinical and translational neurology · 2026Article
- Sural/Radial Amplitude Ratio: A Useful Tool to Diagnose Non-Length-Dependent Neuropathy.Muscle & nerve · 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
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Article
- Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.Brain : a journal of neurology · 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
- Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study.Frontiers in neurology · 2024Article
- Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.Brain : a journal of neurology · 2023Article
- Review
- MultisystemicNeurology. Clinical practice · 2023Article
- The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene.Acta neurologica Belgica · 2023Article
- The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.Cerebellum (London, England) · 2023Article
- Truncating Variants inNeurology · 2023Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. "Chronic Idiopathic Axonal Polyneuropathy" (CIAP) is a common indolent axonal neuropathy of adulthood which remains without an identifiable cause despite thorough investigations.
methodsWe screened 234 probands diagnosed with CIAP for a pathogenic biallelic RFC1 AAGGG repeat expansion. Patients were selected from 594 consecutive patients with neuropathy referred to our tertiary-care center for a sural nerve biopsy over 10 years.
resultsThe RFC1 AAGGG repeat expansion was common in patients with pure sensory neuropathy (21/40, 53%) and less frequent in cases with predominantly sensory (10/56, 18%, P < 0.001) or sensorimotor (3/138, 2%, P < 0.001) neuropathy. The mutation was associated with sensory ataxia (τ
conclusionsThis study highlights the frequent occurrence of the RFC1 AAGGG repeat expansion in patients diagnosed with CIAP and characterizes the clinical and pathological features of the related neuro(no)pathy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.