title: Sleep quality in a family with hereditary parkinsonism (PARK6).
abstract: OBJECTIVE
  The autosomal recessive disorder PARK6 manifests as early-onset Parkinson's disease (PD) with a particularly mild progression. PARK6 is of particular scientific interest, since it is caused by loss-of-function mutations in the mitochondrial protein kinase PINK1 and may thus serve as a model for oxidative damage in PD and in other basal ganglia disorders. Sleep disturbances are very common in PD but have not yet been reported for PARK6 patients. The present study reports on sleep of a Spanish family with PARK6. Of the 5 siblings, 3 were homozygous and severely affected, and 2 were heterozygous and clinically asymptomatic. Research questions concerned possible differences in sleep recordings between homozygote and heterozygote siblings and similarities between PARK6 and sporadic PD sleep profiles.
  
  
  METHODS
  The data from detailed clinical interviews of the patients and their bedpartners are reported and compared with polysomnographic data from second-night recordings.
  
  
  CONCLUSIONS
  All siblings had good subjective and objective sleep quality. Restless legs syndrome and rapid eye movement (REM) sleep behaviour disorder (RBD) were not observed, suggesting that sleep disturbances are not commonly found in PARK6 patients. Good sleep quality and the absence of RBD might be a useful diagnostic guide in the differential diagnosis of sporadic PD versus PARK6.
authors.affiliation: Department of Psychiatry, J.W. Goethe University, Frankfurt am Main, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Tuin
authors.forename: U
authors.initials: U
authors.lastname: Voss
authors.forename: K
authors.initials: K
authors.lastname: Kessler
authors.forename: K
authors.initials: K
authors.lastname: Krakow
authors.forename: R
authors.initials: R
authors.lastname: Hilker
authors.forename: B
authors.initials: B
authors.lastname: Morales
authors.forename: H
authors.initials: H
authors.lastname: Steinmetz
authors.forename: G
authors.initials: G
authors.lastname: Auburger
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology*; D017286:Polysomnography; D011494:Protein Kinases / Q000235:genetics*; D012894:Sleep Stages / Q000502:physiology; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase