同卵双胞胎患发作性睡病-猝倒症，下丘脑分泌素（食欲素）通路无任何可检测到的异常。

Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway.

作者信息

Khatami Ramin, Maret Stéphanie, Werth Esther, Rétey Julia, Schmid Dagmar, Maly Friedrich, Tafti Mehdi, Bassetti Claudio L

机构信息

Neurology Department, University Hospital, CH 8091, Zurich, Switzerland.

出版信息

Lancet. 2004 Apr 10;363(9416):1199-200. doi: 10.1016/S0140-6736(04)15951-5.

DOI:10.1016/S0140-6736(04)15951-5

PMID:15081654

Abstract

Narcolepsy with cataplexy is thought to be a hypocretin ligand or hypocretin receptor deficiency syndrome caused by genetic and environmental factors. We looked for an abnormality of the hypocretin pathway in HLA-DQB1*0602-positive monozygotic twins who were concordant for narcolepsy-cataplexy. They had normal cerebrospinal fluid concentrations of hypocretin-1, and we found no mutation in the prepro-hypocretin gene or either hypocretin receptor gene. Our finding points to the existence of presumably genetic forms of narcolepsy with cataplexy without any demonstrable defect in the hypocretin pathway.

摘要

发作性睡病伴猝倒被认为是一种由遗传和环境因素导致的下丘脑分泌素配体或下丘脑分泌素受体缺乏综合征。我们在发作性睡病伴猝倒症状一致的 HLA - DQB1*0602 阳性同卵双胞胎中寻找下丘脑分泌素通路的异常情况。他们脑脊液中的下丘脑分泌素 - 1 浓度正常，并且我们在前阿黑皮素原基因或任何一个下丘脑分泌素受体基因中均未发现突变。我们的研究结果表明，可能存在发作性睡病伴猝倒的遗传形式，而下丘脑分泌素通路并无任何可证实的缺陷。