PMID- 11431000 OWN - NLM STAT- MEDLINE DCOM- 20010823 LR - 20190826 IS - 0165-5728 (Print) IS - 0165-5728 (Linking) VI - 117 IP - 1-2 DP - 2001 Jul 2 TI - Narcolepsy and the HLA region. PG - 9-20 AB - Narcolepsy was first shown to be tightly associated with HLA-DR2 and DQ1 in 1983, suggesting a possible autoimmune mechanism. Early investigations failed to demonstrate this hypothesis, postulating that HLA-DR2 was only a linkage marker for another, unknown narcolepsy-causing gene. The autoimmune hypothesis is now being re-evaluated under the light of recent results. Like many other autoimmune disorders, narcolepsy usually starts during adolescence, is human leukocyte antigen (HLA)-associated, multigenic and environmentally influenced. Furthermore, HLA-association studies indicated a primary HLA-DQ effect with complex HLA class II allele interactions and a partial contribution of HLA to overall genetic susceptibility. Finally, recent result suggests that human narcolepsy is associated with the destruction of a small number of hypothalamic neurons containing the peptide hypocretins (orexins). This data is consistent with an immune destruction of hypocretin-containing cells as the most common etiology for human narcolepsy. FAU - Lin, L AU - Lin L AD - Department of Psychiatry and Behavioral Sciences, Stanford Center for Narcolepsy, Stanford University Medical Center, 1201 Welch Road, P-114, Palo Alto, CA 94305-5485, USA. FAU - Hungs, M AU - Hungs M FAU - Mignot, E AU - Mignot E LA - eng GR - HL59601/HL/NHLBI NIH HHS/United States GR - NS23724/NS/NINDS NIH HHS/United States GR - NS33797/NS/NINDS NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PT - Review PL - Netherlands TA - J Neuroimmunol JT - Journal of neuroimmunology JID - 8109498 RN - 0 (Carrier Proteins) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ1 antigen) RN - 0 (HLA-DR2 Antigen) RN - 0 (Intracellular Signaling Peptides and Proteins) RN - 0 (Neuropeptides) RN - 0 (Orexins) SB - IM MH - Amino Acid Sequence MH - Animals MH - Autoimmunity MH - Carrier Proteins/physiology MH - Dogs MH - HLA-DQ Antigens/chemistry/*genetics/physiology MH - HLA-DR2 Antigen/chemistry/*genetics/physiology MH - Humans MH - *Intracellular Signaling Peptides and Proteins MH - Microsatellite Repeats MH - Molecular Sequence Data MH - Narcolepsy/*immunology/pathology/therapy MH - Neuropeptides/physiology MH - Orexins MH - Structure-Activity Relationship RF - 96 EDAT- 2001/06/30 10:00 MHDA- 2001/08/24 10:01 CRDT- 2001/06/30 10:00 PHST- 2001/06/30 10:00 [pubmed] PHST- 2001/08/24 10:01 [medline] PHST- 2001/06/30 10:00 [entrez] AID - S0165572801003332 [pii] AID - 10.1016/s0165-5728(01)00333-2 [doi] PST - ppublish SO - J Neuroimmunol. 2001 Jul 2;117(1-2):9-20. doi: 10.1016/s0165-5728(01)00333-2.