title: Restless legs syndrome in Wilson's disease: frequency, characteristics, and mimics.
abstract: OBJECTIVE
  To determine characteristics, clinical significance, frequency, and mimics of restless legs syndrome (RLS) in a cohort of Wilson's disease (WD, n = 42/f = 18), compared to healthy, matched controls.
  
  
  METHODS
  Structured clinical interviews (patients and caregiving family members), repeated neurological examinations (afternoon and presleep), comprehensive laboratory tests, WD-, RLS-, and sleep-specific rating scales, and video-polysomnography.
  
  
  RESULTS
  Thirteen patients with WD (13/42 = 31.0%) clearly fulfilled the five diagnostic criteria of RLS; in eight patients (19.1%), the burden of RLS was clinically significant. The RLS was of moderate severity, equally distributed among sexes, manifested mainly in the evening and before falling asleep, and had developed mostly after clinical manifestation of WD (time elapsed 10.2 ± 14.5 years), still at a young mean age (27.5 ± 11.5 years). The known RLS-associated features were absent (normal iron and kidney parameters) or rare (positive family history, polyneuropathy). Compared to WD patients without RLS, patients with RLS were significantly elder and had suffered longer from WD. WD-specific RLS mimics as well as RLS confounding motor comorbidities (dystonia, tremor, chorea) were frequent and a diagnostic challenge; in difficult cases, the differentiation was reached by clinical observation of the motor behavior in the evening or at nighttime.
  
  
  CONCLUSIONS
  RLS was frequent in this cohort of WD and might be causally related to WD. RLS should be included in the diagnostic work-up of WD. In complex motor disorders, differential diagnosis of RLS might require evening/nighttime examination and video-polysomnography. In WD patients with a clinically significant RLS, treatment with dopaminergic substances may be considered.
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: M C
authors.initials: MC
authors.lastname: Trindade
authors.affiliation: Sleep Laboratory, Pulmonary Division, InCor, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: T
authors.initials: T
authors.lastname: Bittencourt
authors.affiliation: Sleep Laboratory, Pulmonary Division, InCor, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: G
authors.initials: G
authors.lastname: Lorenzi-Filho
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: R C
authors.initials: RC
authors.lastname: Alves
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: D C
authors.initials: DC
authors.lastname: de Andrade
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: E T
authors.initials: ET
authors.lastname: Fonoff
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: E
authors.initials: E
authors.lastname: Bor-Seng-Shu
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: A A
authors.initials: AA
authors.lastname: Machado
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: M J
authors.initials: MJ
authors.lastname: Teixeira
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: E R
authors.initials: ER
authors.lastname: Barbosa
authors.affiliation: Division of Neurology and Neurosurgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.|Sleep Laboratory, Pulmonary Division, InCor, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.
authors.forename: G G
authors.identifier: http://orcid.org/0000-0003-1325-8345
authors.initials: GG
authors.lastname: Tribl
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D015897:Comorbidity; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination / Q000379:methods; D017286:Polysomnography / Q000379:methods; D012148:Restless Legs Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D012890:Sleep / Q000502:physiology; D014202:Tremor / Q000175:diagnosis / Q000453:epidemiology; D055815:Young Adult
keywords: Willis-Ekbom disease; Wilson's disease; frequency; restless legs syndrome; restless legs syndrome mimics