Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease

Background and Objectives: ) gene are a common cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome and other late-onset ataxias. Recent evidence suggests a broader phenotypic spectrum. This systematic review and meta-analysis evaluated the prevalence and features of motor neuron, extrapyramidal, and cognitive involvement in RFC1 disease. Methods: < 0.10 in univariate analyses. Results: = 0.041). 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.

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Publication Details

Journal
Neurology Genetics
Published
2026-05-08
DOI
https://doi.org/10.1212/nxg.0000000000200393
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease

Mehrnaz Hamedani, Riccardo Curró, Federico Zaottini, Riccardo Manca et al.
Neurology Genetics
Cardiomyopathy and Myosin Studies
article

Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease

Mehrnaz Hamedani, Riccardo Curró, Federico Zaottini, Riccardo Manca, Marina Grandis, Carlo Asteggiano, Matteo Pardini, Sara Massucco, Marta Ponzano, Maria João Malaquias, Edoardo Roveta, Angelo Schenone, Anna Pichiecchio, Federico Massa, Andrea Cortese
article en

Abstract

Background and Objectives: ) gene are a common cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome and other late-onset ataxias. Recent evidence suggests a broader phenotypic spectrum. This systematic review and meta-analysis evaluated the prevalence and features of motor neuron, extrapyramidal, and cognitive involvement in RFC1 disease. Methods: < 0.10 in univariate analyses. Results: = 0.041). 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.

Neurology GeneticsVol. 12(3)
University of Parma (IT), University of Pavia (IT), Foundation Center (US), Urology Foundation (GB), Administração Regional de Saúde de Lisboa e Vale do Tejo (PT), Department of Health (TW), Azienda Ospedaliera S.Maria (IT), National Hospital for Neurology and Neurosurgery (GB), Fondazione IRCCS Istituto Neurologico Carlo Besta (IT), University College London (GB), University of Genoa (IT)
Openalex Percentile: Top 6%
Cardiomyopathy and Myosin Studies
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