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20-September-2008 10:08:29 - Advanced sleep phase syndrome This article may require cleanup to meet 's quality standards. Please improve this article if you can. August 2006 Advanced sleep phase syndrome Classification and external resources ICD-9 327.32 MeSH D020178 Advanced sleep phase syndrome ASPS, also known as the advanced sleep-phase type ASPT of circadian rhythm sleep disorder, is a condition in which patients feel very sleepy early in the evening e.g. 18:00-19:00 and wake up very early in the morning e.g. 03:00. ASPS is frequently encountered in the elderly and in post-menopausal women. It can be treated pharmacologically, with evening bright lights, or behaviorally with chronotherapy or free-running sleep. Familial advanced sleep phase syndrome FASPS In 1999, Louis PtáÄ?ek's research group at the University of California, San Francisco reported findings of a human circadian rhythm disorder showing a familial tendency. The disorder was characterized by a life-long pattern of sleep onset around 7:30pm and offset around 4:30am. Among three lineages, 29 people were identified as affected with this familial advanced sleep-phase syndrome FASPS, and 46 were considered unaffected. The pedigrees demonstrated FASPS to be a highly penetrant, autosomal dominant trait.1 Two years after reporting the finding of FASPS, PtáÄ?ek's group published results of genetic sequencing analysis on a family with FASPS. To narrow their search they took a cue from research on Per mutations in Drosophila2 and mouse3 models, which produced short-day mutants and were predicted to produce a phase advance in humans.4 With this guidance they quickly found what they were looking for. Sequencing of the hPer2 gene revealed a serine-to-glycine point mutation in the CK1ε binding domain of the hPER2 protein.5 In 2005, PtáÄ?ek's lab reported discovery of a different mutation causing FASPS. This time the CK1δ was implicated, demonstrating an A-to-G missense mutation that resulted in a threonine-to-alanine alteration in the protein.6 The evidence for both of these reported causes of FASPS is strengthened by the absence of said mutations in all tested control subjects.56 See also Circadian rhythm sleep disorder Delayed sleep phase syndrome Non-24-hour sleep-wake syndrome References ^ Jones, Christopher R.; Scott S. Campbell, Stephanie E. Zone, et al. September 1999. Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. Nature Medicine 5 9: 1062-1065. doi:10.1038/12502. PMID 10470086. Retrieved on 2007-05-06. ^ Konopka, Ronald J.; Seymour Benzer September 1971. Clock mutants of Drosophila melanogaster. Proceedings of the National Academy of Sciences 68 9: 2112-2116. doi:10.1073/pnas.68.9.2112. PMID 5002428. Retrieved on 2007-05-06. ^ Zehng, Binhai; David W. Larkin, Urs Albrecht, et al. 8 July 1999. The mPer2 gene encodes a functional component of the mammalian circadian clock. Nature 400 6740: 169-173. doi:10.1038/22118. PMID 10408444. Retrieved on 2007-05-06. ^ Klerman, E. B.; D. J. Dijk, R. E. Kronauer, C. A. Czeisler January 1996. Simulations of light effects on the human circadian pacemaker: implications for assessment of intrinsic period. American Journal of Physiology 270 1: 271-282. PMID 8769811. Retrieved on 2007-05-06. ^ a b Toh, Kong L.; Christopher R. Jones, Yan He, et al. 9 February 2001. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 291 5506: 1040-1043. doi:10.1126/science.1057499. PMID 11232563. Retrieved on 2007-05-06. ^ a b Xu, Ying; Quasar S. Padiath, Robert E. Shapiro, et al. 31 March 2005. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome. Nature 434 7033: 640-644. doi:10.1038/nature03453. PMID 15800623. Retrieved on 2007-05-06. v d e Pathology of the nervous system, primarily CNS G00-G47, 320-349 Inflammatory Meningitis Arachnoiditis - Encephalitis - Myelitis - Encephalomyelitis Acute disseminated - Tropical spastic paraparesis - Cavernous sinus thrombosis Systemic atrophies Huntington's disease - Spinocerebellar ataxia Friedreich's ataxia, Ataxia telangiectasia, Herary spastic paraplegia - Spinal muscular atrophy: Werdnig-Hoffman - Kugelberg-Welander - Fazio-Londe - MND ALS, PMA, PBP, PP, PLS Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia/Dyskinesia Spasmodic torticollis, Meige's, Blepharospasm - Essential tremor - Myoclonus - Lafora - Chorea Choreoathetosis - Restless legs - Stiff person Other degenerative/ demyelinating diseases dementia: Alzheimer's - Pick's - Dementia with Lewy bodies - Frontotemporal lobar degeneration mitochondrial disease: Leigh's demyelinating: Multiple sclerosis - Devic's - Central pontine myelinolysis - Transverse myelitis - Marchiafava-Bignami disease - CAMFAK syndrome - Alpers' Seizure/epilepsy Focal - Generalised - Status epilepticus - Myoclonic epilepsy Headache Migraine Familial hemiplegic - Cluster - Vascular - Tension Vascular Transient ischemic attack Amaurosis fugax, Transient global amnesia Cerebrovascular disease MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke Sleep disorders Insomnia - Hypersomnia - Sleep apnea Obstructive, Ondine's curse - Narcolepsy - Cataplexy - Kleine-Levin - Circadian rhythm sleep - Delayed sleep phase - Advanced sleep phase Intracranial hypertension Hydrocephalus Normal pressure - Idiopathic intracranial hypertension Other encephalopathy Brain herniation - Cerebral edema - Reye's Other spinal cord disease Syringomyelia - Syringobulbia - Morvan's syndrome - Spinal cord compression Retrieved from http://en..org/wiki/Advanced_sleep_phase_syndrome Categories: Sleep disorders | Circadian rhythms | SyndromesHidden categories: Cleanup from August 2006 | All pages needing cleanup Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 19 June 2008, at 14:38
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