PMID- 27253765 OWN - NLM STAT- MEDLINE DCOM- 20170907 LR - 20190318 IS - 1550-9109 (Electronic) IS - 0161-8105 (Print) IS - 0161-8105 (Linking) VI - 39 IP - 8 DP - 2016 Aug 1 TI - Familial Kleine-Levin Syndrome: A Specific Entity? PG - 1535-42 LID - 10.5665/sleep.6014 [doi] AB - STUDY OBJECTIVES: Kleine-Levin syndrome (KLS) is a rare, mostly sporadic disorder, characterized by intermittent episodes of hypersomnia plus cognitive and behavior disorders. Although its cause is unknown, multiplex families have been described. We contrasted the clinical and biological features of familial versus sporadic KLS. METHODS: Two samples of patients with KLS from the United States and France (n = 260) were studied using clinical interviews and human leukocyte antigen (HLA) genotyping. A multiplex family contained two or more first- or second-degree affected relatives (familial cases). RESULTS: Twenty-one patients from 10 multiplex families (siblings: n = 12, including two pairs of monozygotic twins; parent-child: n = 4; cousins: n = 2; uncle-nephews: n = 3) and 239 patients with sporadic KLS were identified, yielding to 4% multiplex families and 8% familial cases. The simplex and multiplex families did not differ for autoimmune, neurological, and psychiatric disorders. Age, sex ratio, ethnicity, HLA typing, karyotyping, disease course, frequency, and duration of KLS episodes did not differ between groups. Episodes were less frequent in familial versus sporadic KLS (2.3 +/- 1.8/y versus 3.8 +/- 3.7/y, P = 0.004). Menses triggered more frequently KLS onset in the nine girls with familial KLS (relative risk, RR = 4.12, P = 0.03), but not subsequent episodes. Familial cases had less disinhibited speech (RR = 3.44, P = 0.049), less combined hypophagia/hyperphagia (RR = 4.38, P = 0.006), more abrupt termination of episodes (RR = 1.45, P = 0.04) and less postepisode insomnia (RR = 2.16, P = 0.008). There was similar HLA DQB1 distribution in familial versus sporadic cases and no abnormal karyotypes. CONCLUSION: Familial KLS is mostly present in the same generation, and is clinically similar to but slightly less severe than sporadic KLS. CI - (c) 2016 Associated Professional Sleep Societies, LLC. FAU - Nguyen, Quang Tuan Remy AU - Nguyen QT AD - National Reference Center for Narcolepsy, Idiopathic Hypersomnia and Kleine-Levin Syndrome, Sleep Disorders Unit and Hospital-University Institute of Neuroscience, Pitie-Salpetriere Hospital (APHP), Pierre and Marie Curie University, Paris, France. FAU - Groos, Elisabeth AU - Groos E AD - National Reference Center for Narcolepsy, Idiopathic Hypersomnia and Kleine-Levin Syndrome, Sleep Disorders Unit and Hospital-University Institute of Neuroscience, Pitie-Salpetriere Hospital (APHP), Pierre and Marie Curie University, Paris, France. FAU - Leclair-Visonneau, Laurene AU - Leclair-Visonneau L AD - Regional Competence Center for Narcolepsy, Idiopathic Hypersomnia and Kleine-Levin Syndrome, Laennec University Hospital, Nantes, France. FAU - Monaca-Charley, Christelle AU - Monaca-Charley C AD - Regional Competence Center for Narcolepsy, Idiopathic Hypersomnia and Kleine-Levin Syndrome, Salengro University Hospital, Lille, France. FAU - Rico, Tom AU - Rico T AD - Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA. FAU - Farber, Neal AU - Farber N AD - Kleine-Levin Syndrome Foundation, Boston, MA. FAU - Mignot, Emmanuel AU - Mignot E AD - Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA. FAU - Arnulf, Isabelle AU - Arnulf I AD - National Reference Center for Narcolepsy, Idiopathic Hypersomnia and Kleine-Levin Syndrome, Sleep Disorders Unit and Hospital-University Institute of Neuroscience, Pitie-Salpetriere Hospital (APHP), Pierre and Marie Curie University, Paris, France. LA - eng PT - Comparative Study PT - Journal Article DEP - 20160801 PL - United States TA - Sleep JT - Sleep JID - 7809084 SB - IM MH - Disorders of Excessive Somnolence/complications/genetics MH - Family Health MH - Female MH - France MH - Genotype MH - Histocompatibility Testing MH - Humans MH - Hyperphagia/complications/genetics MH - Kleine-Levin Syndrome/*classification/complications/*genetics/physiopathology MH - Male MH - Pedigree MH - Rare Diseases/complications/genetics/physiopathology MH - Sleep Initiation and Maintenance Disorders/complications/genetics MH - United States MH - Young Adult PMC - PMC4945312 OTO - NOTNLM OT - *Kleine-Levin syndrome OT - *family OT - *hypersomnia OT - *multiplex OT - *periodic EDAT- 2016/06/03 06:00 MHDA- 2017/09/08 06:00 PMCR- 2017/02/01 CRDT- 2016/06/03 06:00 PHST- 2016/03/07 00:00 [received] PHST- 2016/04/25 00:00 [accepted] PHST- 2016/06/03 06:00 [entrez] PHST- 2016/06/03 06:00 [pubmed] PHST- 2017/09/08 06:00 [medline] PHST- 2017/02/01 00:00 [pmc-release] AID - sp-00113-16 [pii] AID - 10.5665/sleep.6014 [doi] PST - epublish SO - Sleep. 2016 Aug 1;39(8):1535-42. doi: 10.5665/sleep.6014.