Gotthard G Tribl1, Mateus C Trindade2, Thais Bittencourt3, Geraldo Lorenzi-Filho3, Rosana Cardoso Alves2, Daniel Ciampi de Andrade2, Erich T Fonoff2, Edson Bor-Seng-Shu2, Alexandre A Machado2, Carlos H Schenck4, Manoel J Teixeira2, Egberto R Barbosa2. 1. Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Av. Dr. Eneas de Carvalho Aguiar, 255, 5° andar, sala 5084, Pinheiros, 05403-900 Sao Paulo, Brazil; Sleep Laboratory, Pulmonary Division, InCor, University of Sao Paulo School of Medicine, Av. Dr. Eneas de Carvalho Aguiar, 44, Cerqueira Cesar, 05403-000 Sao Paulo, Brazil. Electronic address: gtribl@hotmail.com. 2. Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Av. Dr. Eneas de Carvalho Aguiar, 255, 5° andar, sala 5084, Pinheiros, 05403-900 Sao Paulo, Brazil. 3. Sleep Laboratory, Pulmonary Division, InCor, University of Sao Paulo School of Medicine, Av. Dr. Eneas de Carvalho Aguiar, 44, Cerqueira Cesar, 05403-000 Sao Paulo, Brazil. 4. Department of Psychiatry, Minnesota Regional Sleep Disorders Center, Hennepin County Medical Center and University of Minnesota Medical School, 701 Park Ave., Minneapolis, MN 55415, USA.
Abstract
OBJECTIVE: Quantitative data are reported on rapid eye movement (REM) sleep behavior disorder (RBD) in a cohort of predominantly neurological Wilson's disease (WD). METHODS: A total of 41 patients with WD and 41 healthy, age- and gender-matched controls were studied by conducting face-to-face interviews, neurological and clinical examinations, laboratory tests, and WD- and RBD-specific scales. Video-polysomnography and quantification of REM sleep without atonia (RWA) were conducted in 35 patients and 41 controls. RESULTS: Patients with WD showed significantly worse sleep quality, less sleep efficiency, increased wakefulness after sleep onset, and more arousals compared to healthy controls. Five patients with WD (four women) fulfilled the diagnostic criteria for RBD with significantly higher values in RWA, RBD Questionnaire-Hong Kong, and RBD Screening Questionnaire compared to patients with WD without RBD. In three patients with WD, RBD had manifested before any other symptom that could be attributed to WD. Percentage of RWA was significantly lower in WD without RBD than in WD with RBD, but still significantly increased compared to controls. CONCLUSIONS: RBD can be comorbid with WD. RWA is commonly present in WD, both in the presence or absence of clinical RBD. A causal connection is possible, though retrospective determination of RBD onset and the low number of patients do not allow a definitive conclusion at this point. However, screening for WD in idiopathic RBD is available at low cost and is recommended. Early-stage copper chelation therapy provides a highly effective treatment to prevent further WD manifestations and might also control the comorbid RBD.
OBJECTIVE: Quantitative data are reported on rapid eye movement (REM) sleep behavior disorder (RBD) in a cohort of predominantly neurological Wilson's disease (WD). METHODS: A total of 41 patients with WD and 41 healthy, age- and gender-matched controls were studied by conducting face-to-face interviews, neurological and clinical examinations, laboratory tests, and WD- and RBD-specific scales. Video-polysomnography and quantification of REM sleep without atonia (RWA) were conducted in 35 patients and 41 controls. RESULTS:Patients with WD showed significantly worse sleep quality, less sleep efficiency, increased wakefulness after sleep onset, and more arousals compared to healthy controls. Five patients with WD (four women) fulfilled the diagnostic criteria for RBD with significantly higher values in RWA, RBD Questionnaire-Hong Kong, and RBD Screening Questionnaire compared to patients with WD without RBD. In three patients with WD, RBD had manifested before any other symptom that could be attributed to WD. Percentage of RWA was significantly lower in WD without RBD than in WD with RBD, but still significantly increased compared to controls. CONCLUSIONS: RBD can be comorbid with WD. RWA is commonly present in WD, both in the presence or absence of clinical RBD. A causal connection is possible, though retrospective determination of RBD onset and the low number of patients do not allow a definitive conclusion at this point. However, screening for WD in idiopathic RBD is available at low cost and is recommended. Early-stage copper chelation therapy provides a highly effective treatment to prevent further WD manifestations and might also control the comorbid RBD.
Authors: Anna Członkowska; Tomasz Litwin; Petr Dusek; Peter Ferenci; Svetlana Lutsenko; Valentina Medici; Janusz K Rybakowski; Karl Heinz Weiss; Michael L Schilsky Journal: Nat Rev Dis Primers Date: 2018-09-06 Impact factor: 52.329