PMID- 9415944
OWN - NLM
STAT- MEDLINE
DCOM- 19980316
LR  - 20240312
IS  - 0161-8105 (Print)
IS  - 1550-9109 (Electronic)
IS  - 0161-8105 (Linking)
VI  - 20
IP  - 10
DP  - 1997 Oct
TI  - HLA haplotypes, polysomnography, and pedigrees in a case series of patients with 
      narcolepsy.
PG  - 850-7
AB  - An ongoing study of the genetics of narcolepsy ascertains families through a case 
      series of narcoleptic probands using diagnostic criteria consisting of 1) 
      clinical history of excessive somnolence, 2) a mean sleep latency on the multiple 
      sleep latency test (MSLT) of less than 7.9 minutes, 3) the rapid eye movement 
      (REM) sleep-related symptom of cataplexy, 4) nocturnal polysomnography ruling out 
      sleep apnea syndrome, and 5) two or more transitions to REM sleep on the MSLT. 
      All probands and first-degree relatives received clinical and laboratory 
      evaluations as well as human leukocyte antigen (HLA) typing. Demographic 
      characteristics of the 32 probands are as follows: 17 males and 15 females; mean 
      age was 42.1 years (range 13-70 years). The polysomnographic data confirmed 
      daytime sleepiness and increased tendency for REM sleep for the 32 probands. 
      Nocturnal polysomnographic results are as follows: sleep latency, 3.2 minutes; 
      total sleep time, 442 minutes. MSLT results are as follows: sleep latency, 3.1 
      minutes; REM latency, 6.9 minutes; number of REM periods, 3.2. HLA typing 
      revealed the presence of the HLA haplotypes, DRB1*15 and DQB1*0602, in 21 
      narcoleptic probands, with two African-Americans having the DQB1*0602 but not the 
      DRB1*15 allele. Among the 57 relatives of the 32 probands, 1/31 females and 7/26 
      males were found to be affected with narcolepsy (p < 0.02), which suggests a 
      higher diagnostic rate in male relatives. The 21 probands who were positive for 
      the DRB1*15 and DQB1*0602 haplotypes did not differ from the 10 probands who were 
      negative for these alleles in terms of their nocturnal sleep parameters, MSLT 
      findings, or clinical presentation. Three families with multiple individuals 
      affected with narcolepsy are presented. Two families have more than one affected 
      individual who does not have the high-risk HLA haplotype. In one of these 
      families, the disease is segregating independently of any HLA haplotype. In the 
      third family, there is cosegregation with HLA DRB1*15 and DQB1*0602. One family 
      contains a pair of DNA-confirmed, monozygotic twins with narcolepsy who are 
      discordant for cataplexy and have the HLA DR14(Dw9)/DQB1*0503 and 
      DR4(Dw4)/DQB1*0302 haplotypes.
FAU - Hayduk, R
AU  - Hayduk R
AD  - Department of Neuropharmacology, Scripps Research Institute, La Jolla, 
      California, USA.
FAU - Flodman, P
AU  - Flodman P
FAU - Spence, M A
AU  - Spence MA
FAU - Erman, M K
AU  - Erman MK
FAU - Mitler, M M
AU  - Mitler MM
LA  - eng
GR  - M01-RR0083/RR/NCRR NIH HHS/United States
GR  - R01 NS037571-03/NS/NINDS NIH HHS/United States
GR  - R01 NS030019/NS/NINDS NIH HHS/United States
GR  - NS R01-NS30019/NS/NINDS NIH HHS/United States
GR  - M01 RR000083/RR/NCRR NIH HHS/United States
GR  - R01 NS037571-02/NS/NINDS NIH HHS/United States
GR  - R01 NS030019-01/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Sleep
JT  - Sleep
JID - 7809084
RN  - 0 (HLA-DR Antigens)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Female
MH  - HLA-DR Antigens/*genetics
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Narcolepsy/*diagnosis/*genetics
MH  - Pedigree
MH  - Polysomnography/*methods
MH  - Sleep, REM
MH  - Time Factors
PMC - PMC2248798
MID - NIHMS39892
EDAT- 1998/01/07 00:00
MHDA- 1998/01/07 00:01
PMCR- 2008/02/21
CRDT- 1998/01/07 00:00
PHST- 1998/01/07 00:00 [pubmed]
PHST- 1998/01/07 00:01 [medline]
PHST- 1998/01/07 00:00 [entrez]
PHST- 2008/02/21 00:00 [pmc-release]
AID - 10.1093/sleep/20.10.850 [doi]
PST - ppublish
SO  - Sleep. 1997 Oct;20(10):850-7. doi: 10.1093/sleep/20.10.850.