Evidence map›Paper›PMID 40879541›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2025

Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.

Antonio Funcis, Valerio Brunetti, Salvatore Rossi, Giammarco Dalla Zanna, Martina de Scisciolo, Giulia Maneri, Enrico Di Stasio, Antonio Petrucci, Giacomo Della Marca, Gabriella Silvestri

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Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

10 authors.

Antonio FuncisDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0009-0009-6134-5268
Valerio BrunettiDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0000-0002-5714-5353
Salvatore RossiDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Giammarco Dalla ZannaDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Martina de SciscioloDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Giulia ManeriDepartmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Enrico Di StasioDepartment of Basic Biotechnological Sciences, Intensive Care and Perioperative Clinics, Università Cattolica del Sacro Cuore, Rome, Italy.
Antonio PetrucciCenter for Neuromusculr and neurological rare diseases, S.Camillo Forlanini Hospital, Rome, Italy.
Giacomo Della MarcaDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Gabriella SilvestriDepartment of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSleep disturbances in RFC1-spectrum disorders remain unexplored. This study aimed to investigate the prevalence and characteristics of sleep disorders in patients with RFC1-spectrum disorders and their impact on quality of life (QoL).

methodsPatients underwent a comprehensive sleep assessment using validated questionnaires, polysomnography, and QoL evaluation.

resultsAmong 16 participants, 15 (94%) had obstructive sleep apnea: severe in four, moderate in nine, and mild in two. Restless legs syndrome affected 12 patients (75%), with moderate-to-severe symptoms in 11. Periodic limb movements during sleep exceeded the clinical threshold in 10 patients (63%). Rapid eye movement (REM) sleep behavior disorder was identified in 1 patient. Subjective assessments revealed poor sleep quality in 11 patients (69%) and insomnia in 10 (63%). All patients exhibited reduced QoL. Reduction in slow-wave sleep and REM sleep are associated with increased clinical severity.

conclusionRFC1-spectrum disorders are associated with a high prevalence of sleep disorders and impaired QoL, highlighting the need for screening. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Replication Protein CRestless Legs SyndromeSleep Apnea, ObstructiveSleep Wake DisordersAdultAgedCross-Sectional StudiesFemaleHumansMaleMiddle AgedPolysomnographyPrevalenceQuality of LifeREM Sleep Behavior DisorderReplication Protein CRFC1 protein, humanCANVAScerebelluminherited ataxiaRFC1sleep disorder

Identifiers

PMID40879541
PMCPMC12485576

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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.