title: Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.
abstract: Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the Prader-Willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.
authors.affiliation: Department of Clinical Neurosciences, King's College School of Medicine & Dentistry, Denmark Hill, London, UK.
authors.forename: J D
authors.initials: JD
authors.lastname: Parkes
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001766:Blindness / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003638:Deafness / Q000151:congenital* / Q000235:genetics*; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D008995:Monoamine Oxidase / Q000097:blood / Q000235:genetics; D009849:Olivopontocerebellar Atrophies / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012640:Seizures / Q000235:genetics*; D012893:Sleep Wake Disorders / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
chemical_list: D008995:Monoamine Oxidase