Association Of Rapid Eye Movement Sleep Behavior Disorder With Specific Human Leukocyte Antigen Haplotypes

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Narcolepsy, like RBD, is a prominent disorder of REM sleep dysregulation. Narcolepsy has a very strong association with HLA class II genes, with the DQB 1*0602 (DQwl group) allele being expressed in nearly all cases. Our center performed HLA class II antigen phenotyping in a group of 25 Caucasian males who had RBD but not narcolepsy: 84% (n = 21) were DQwl

(DQB 1*05,06) positive [and 28% (n = 7) were DR2 positive]; DQB 1*0501 (n = 9) and DQB 1*0602 (n = 7) were the most common phenotypes (Schenck et al., 1996b). The 84% DQwl rate in RBD was significantly greater (p = .015) than the 56% DQwl rate found in a local Caucasian comparison group (n = 66), and was greater than the 39-66% DQwl rates in 12 published Caucasian groups (n = 40-418 per group). In contrast to the nearly 100% DQwl-DR2 linkage in narcolepsy, only 28% of RBD patients in this report were DR2-positive. The strong dissociation between DQwl and DR2 in RBD can be contrasted with the very strong DQwl-DR2 association in narcolepsy. Narcolepsy and RBD, therefore, have strikingly convergent (DQwl) and divergent (DR2) HLA findings.


The recognition of RBD has demonstrated multiple physiological and clinical relationships; has shed additional scientific light on the "bumps in the night"; has opened up new areas of research on sleep and neurological disorders, particularly extrapyramidal disorders and narcolepsy; and has underscored the vital link between basic research and clinical medicine.


This work was supported in part by a grant from Hennepin Faculty Associates.


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