Update on the Narcolepsy Component of the 13th IHWC
Emmanuel Mignot (mignot@leland.stanford.edu), Ling Ling (Linglin@leland.stanford.edu), Michele Okun (michele.okun@stanford.edu), Stanford University


  February 27, 2000

Participating laboratories:
A total of 10 laboratories worldwide have accepted to participate in the study: M. Billiard, M. Tafti (France and Switzerland); Y. Honda and K. Tokunaga (Japan); S. Nevsimalova (Czech Republik); G. Mayer and A. Latterman (Germany); E. Mignot and C. Grumet (Stanford USA); M. Mitler and R. Hayduk (Scripps, CA USA); J. Montplaisir and G. Rouleau (Canada); Z. Pelin (Turkey); M. Thorpy and R. Kucherlapati (Narcolepsy Registry, NY USA); and C. Gorodezky and H. Baker (Mexico).

Informed consent:
The study is covered by the protocol entitled "Role of HLA Markers in Narcolepsy and Related Disorders" (SPO 13116).

Current Update:
We now have received samples from 9 groups and are wating for samples from one center. The following samples have been collected and are now available at Stanford.

    1. Samples of HLA matched narcolepsy and control subjects: 150 HLA typed matched controls and narcolepsy Caucasian subjects; 70 Japanese control and 70 paired narcoleptic subjects; 70 matched African American controls and narcoleptic subjects.

    2. Triads: two hundred and forty triads are currently available (720 samples).

    3. Non DQB1*0602 - eighty-five subjects with clear-but cataplexy are currently available.


Procedures:
HLA-DR and DQ matched samples and all available trios will be sent to the National Center for Genotyping (CNG) in Paris, France for microsatellite testing (14 loci). Fifty Caucasian controls and 50 matched narcoleptic subjects have already been sent to the CNG. Non-DQB1*0602 negative subjects will be high resolution typed at Stanford University. All trios will be HLA-DR and DQ typed at Stanford University.

Database needs:
Demographic: IHW id#, initials, DOB, sex, main ethnic background (American Indian, Asian, Caucasian, Black, Hispanic), ethnic origin (ie., Mexican, French, Pakistani, etc), Country of birth (ie, USA, Russia.....), Diagnosis (narcolepsy, control, mother of narcoleptic patient, father of narcoleptic patient), recruitment procedure (random narcoleptic patient, random ethnically matched control, trio, non DQB1*0602)

Narcolepsy symptoms if applicable: Epworth Sleepiness Scale, Excessive daytime sleepiness (Y/N), Onset of sleepiness (Age); Cataplexy (Y/N), Onset of cataplexy (Age); Cataplexy triggered by joking (Y/N), and/or laughing (Y/N), and/or anger (Y/N), Sleep paralysis (Y/N), Hypnagogic hallucination (Y/N), Disrupted nocturnal sleep (Y/N), MSLT: mean sleep latency (minutes) and number of SOREMP (0 to 5).

Genotyping (allele 1, allele 2): HLA-DRB1, DQA1, DQB1, microsatellites (D6S291, DQCAR, D6S273, D6S265, D6S2222, D62223, D6S2239, TNFD, MIB, MICA, D6276, DQCAR2, G55152, and DQIV), HLA-A, HLA-B, TNFA-857T/C, other SNPs.

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