PMID- 17658488
OWN - NLM
STAT- MEDLINE
DCOM- 20071026
LR  - 20151119
IS  - 0006-8993 (Print)
IS  - 0006-8993 (Linking)
VI  - 1165
DP  - 2007 Aug 24
TI  - HLA-DQB1 genotyping in a family with narcolepsy-cataplexy.
PG  - 1-4
AB  - Narcolepsy is a unique model for dysfunction in mechanisms that regulate sleep 
      and wakefulness. The narcolepsy syndrome is characterized by excessive daytime 
      sleepiness with recurrent episodes of irresistible sleep, cataplexy, hypnagogic 
      and/or hypnopompic hallucinations and sleep paralysis. The current hypothesis for 
      the etiology of narcolepsy is that it is an autoimmune disorder because of its 
      strong association with the human leukocyte antigen (HLA) system. HLA-DQ alleles 
      are not particularly mutated in narcoleptic patients but they directly influence 
      susceptibility to the disease. DQB10602 homozygote carriers have a two to four 
      times higher risk of developing the disease than heterozygote carriers. In the 
      present study we report a rare multiplex familial case of narcolepsy-cataplexy 
      and show the strong effect of the HLA-DQB10602 allele upon the disease phenotype. 
      In the family studied herein, both the proband and his brother are severely 
      affected and homozygous DQB10602, whereas their sister does not carry the allele 
      and is not affected at all. These data corroborate previous findings proposing 
      DQB10602 homozygous subjects to be far more susceptible to narcolepsy. Insights 
      into the DQB10602 positive family that include homozygous subjects may prove to 
      be an important asset in the investigation of genetic vs. environmental factors 
      predisposing to narcolepsy.
FAU - Pedrazzoli, Mario
AU  - Pedrazzoli M
AD  - Department of Psychobiology, Universidade Federal de Sao Paulo, Brazil. 
      pedrazzo@psicobio.epm.br
FAU - Pontes, Josy Covan
AU  - Pontes JC
FAU - Peirano, Patricio
AU  - Peirano P
FAU - Tufik, Sergio
AU  - Tufik S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070623
PL  - Netherlands
TA  - Brain Res
JT  - Brain research
JID - 0045503
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (Neuropeptides)
RN  - 0 (Orexins)
SB  - IM
MH  - Adult
MH  - *Disease Susceptibility
MH  - *Family Health
MH  - Genotype
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ beta-Chains
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins/cerebrospinal fluid
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Narcolepsy/cerebrospinal fluid/*genetics
MH  - Neuropeptides/cerebrospinal fluid
MH  - Orexins
EDAT- 2007/07/31 09:00
MHDA- 2007/10/30 09:00
CRDT- 2007/07/31 09:00
PHST- 2007/04/09 00:00 [received]
PHST- 2007/05/18 00:00 [revised]
PHST- 2007/05/19 00:00 [accepted]
PHST- 2007/07/31 09:00 [pubmed]
PHST- 2007/10/30 09:00 [medline]
PHST- 2007/07/31 09:00 [entrez]
AID - S0006-8993(07)01208-5 [pii]
AID - 10.1016/j.brainres.2007.05.075 [doi]
PST - ppublish
SO  - Brain Res. 2007 Aug 24;1165:1-4. doi: 10.1016/j.brainres.2007.05.075. Epub 2007 
      Jun 23.