ReviewNeurology. Genetics2026
Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.
Review in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Biallelic intronic repeat expansions in the replication factor C subunit 1 ( Methods: We systematically searched PubMed, Scopus, and Web of Science for studies reporting motor neuron, extrapyramidal, or cognitive involvement in RFC1 disease from inception to March 2025. Eligible sources comprised research articles and case reports/series on genetically confirmed cases. Extracted data included publication details, study design, location, and individual participant data (IPD) covering demographics, signs, and symptoms. When needed, IPD were obtained from corresponding authors. Random-effects models were used to estimate pooled prevalences (95% CIs). Univariable mixed-effects logistic regression accounted for clustering within studies, with multivariable models including variables with Results: Of 729 articles, 37 were included in the systematic review and 36 (874 patients) in the proportion meta-analyses. For IPD meta-analysis, 30 cohorts provided data on 312 patients (mean age 66.91 ± 10.76 years; median disease duration 12 [interquartile range 7-18] years; 51.5% male). Upper and lower motor neuron signs were present in 18% (95% CI 6%-34%) and 11% (95% CI 2%-24%). Patients with the ACAGG pentanucleotide repeat expansion (biallelic or compound heterozygous with an AAGGG expansion) had higher odds of muscle atrophy (OR 17.90, Discussion: Motor neuron, extrapyramidal, and cognitive involvement may extend the phenotypic spectrum of RFC1 disease. Still, their true prevalence remains uncertain due to heterogeneity across studies, with potential overestimation from publication bias favoring atypical cases and underestimation when subtle signs are not systematically investigated. Larger multicenter cohorts with standardized assessments are needed to clarify their clinical relevance.
Identifiers
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Registered trials
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.