Clinical and polysomnographic features in DQB1*0602
positive and negative narcolepsy patients: results from the
moda®nil clinical trial
Seung Chul Hong
, Roza Hayduk
, Johan Lim
, Emmanuel Mignot
Department of Neuropsychiatry, St. Vincent's Hospital, College of Medicine, Catholic University of Korea, Seoul, South Korea
Department of Neuropharmacology, The Scripps Research Institute, La Jolla, CA, USA
Department of Statistics, Stanford University, Stanford, CA, USA
Center for Narcolepsy, Stanford University, Department of Psychiatry and Behavioral Sciences, 1201 Welch Road, P114, Stanford, CA 94305-
Received 11 September 1999; received in revised form 6 October 1999; accepted 6 October 1999
Background: Narcolepsy, a neurological disorder characterized by excessive daytime sleepiness and abnormal REM sleep,
is known to be tightly associated with the human leukocyte antigen (HLA) DQB1*0602.
Methods: In this study, baseline data collected for a large clinical trial involving 504 narcolepsy patients were used to
compare clinical and polysomnographic features of narcolepsy patients with and without HLA-DQB1*0602. Comparisons were
adjusted for possible confounding factors and linear regression modeling was used to extract the best predictors for DQB1*0602
Results: As previously reported, cataplexy was the best clinical predictor for DQB1*0602 positivity. At the polysomno-
graphic level, subjects with DQB1*0602 were found to have a signi®cantly more disrupted nocturnal sleep, a much shorter
nocturnal rapid eye movement (REM) sleep latency and more multiple sleep latency test abnormalities (increased number of
sleep onset REM periods and decreased mean sleep latency). We also found that subjects with DQB1*0602 had a much higher
incidence of periodic limb movements during sleep, con®rming the notion that this symptom is genuinely associated with the
Conclusions: These results support the notion that HLA-DQB1*0602-positive narcolepsy patients are more etiologically
homogenous than HLA-DQB1*0602-negative narcoleptic patients. q 2000 Elsevier Science B.V. All rights reserved.
Keywords: Narcolepsy; Cataplexy; Human leukocyte antigen; DQB1*0602
Narcolepsy is a neurological disorder characterized
by sleepiness and symptoms of abnormal rapid eye
movement (REM) sleep such as cataplexy . Since
1984, narcolepsy-cataplexy has been shown to be
associated with HLA-DR2 in various ethnic groups
. Genomic sequencing studies, family studies and
transethnic association studies have all shown that
DQB1*0602 rather than a yet unidenti®ed gene or
the previously identi®ed HLA-DR2 subtype is the
actual susceptibility factor for narcolepsy [3±6].
HLA-DQB1*0602 is present in 85±100% of narcolep-
Sleep Medicine 1 (2000) 33±39
1389-9457/00/$ - see front matter q 2000 Elsevier Science B.V. All rights reserved.
* Corresponding author. Fax: 11650-498-7761.
E-mail address: firstname.lastname@example.org (E. Mignot)