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

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders Pub Date : 2025-07-21 DOI:10.1002/mds.30279

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

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Abstract

Background

Sleep 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).

Methods

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

Results

Among 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.

Conclusion

RFC1-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.

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RFC1谱系障碍患者睡眠障碍的患病率及临床相关性：一项横断面研究

RFC1谱系障碍中的睡眠障碍仍未被研究。本研究旨在探讨RFC1谱系障碍患者睡眠障碍的患病率、特点及其对生活质量的影响。方法采用有效问卷、多导睡眠图和生活质量评估对患者进行全面的睡眠评估。结果在16名参与者中，15名（94%）患有阻塞性睡眠呼吸暂停：4名重度，9名中度，2名轻度。不宁腿综合征患者12例（75%），其中11例出现中度至重度症状。10例患者（63%）睡眠期间周期性肢体运动超过临床阈值。1例发现快速眼动睡眠行为障碍。主观评估显示，11名患者睡眠质量差（69%），10名患者失眠（63%）。所有患者的生活质量均下降。慢波睡眠和快速眼动睡眠的减少与临床严重程度的增加有关。结论rfc1谱系障碍与睡眠障碍和生活质量受损的高发率相关，强调筛查的必要性。©2025作者。Wiley期刊有限责任公司代表国际帕金森和运动障碍学会出版的《运动障碍》。

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来源期刊

Movement Disorders 医学-临床神经学

CiteScore

13.30

自引率

8.10%

发文量

371

审稿时长

12 months

期刊介绍： Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.