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

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.