title: HLA DR15 (DR2) and DQB1*0602 typing studies in 188 narcoleptic patients with cataplexy.
abstract: Narcolepsy is considered a homogeneous clinical entity when excessive daytime sleepiness and cataplexy are present. Cataplexy is a polymorphic symptom that can be very mild and is thus subjectively defined. The Multiple Sleep Latency Test (MSLT) is widely used as a diagnostic test for narcolepsy. A short mean sleep latency and multiple sleep onset REM periods (SOREMPs) are typically observed in narcoleptic patients. The discovery of a tight association of narcolepsy with HLA class II antigens offers a unique opportunity to explore the respective value of the MSLT or of the presence of clear-cut cataplexy in defining an etiologically homogeneous group of narcoleptic patients. In this study, we carried out HLA typing for DR15(DR2) and DQB1*0602 in 188 narcoleptic patients with cataplexy in three ethnic groups (24 Asians, 61 Blacks, and 103 Caucasians). These results confirm the importance of DQB1*0602 typing rather than DR15 (DR2) typing in Black narcoleptic patients and demonstrate that the presence of clear-cut cataplexy is a better predictor for DQB1*0602 positivity than the presence of abnormal MSLT results.
authors.affiliation: School of Nursing, University of Michigan, Ann Arbor, USA.
authors.forename: A E
authors.initials: AE
authors.lastname: Rogers
authors.forename: J
authors.initials: J
authors.lastname: Meehan
authors.forename: C
authors.initials: C
authors.lastname: Guilleminault
authors.forename: F C
authors.initials: FC
authors.lastname: Grumet
authors.forename: E
authors.initials: E
authors.lastname: Mignot
mesh_terms: D044466:Asian People / Q000235:genetics; D015415:Biomarkers; D044383:Black People / Q000235:genetics; D002385:Cataplexy / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D005260:Female; D006683:HLA-DQ Antigens / Q000235:genetics* / Q000276:immunology; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics* / Q000276:immunology; D059810:HLA-DR Serological Subtypes; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D017286:Polysomnography; D012737:Sex Factors; D044465:White People / Q000235:genetics
chemical_list: D015415:Biomarkers; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059810:HLA-DR Serological Subtypes; C106559:HLA-DR15 antigen