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

被引：42

作者：

Khatami, R

Maret, S

Werth, E

Rétey, J

Schmid, D

Maly, F

Tafti, M

Bassetti, CL ^{[1
]}

机构：

[1] Univ Zurich Hosp, Dept Neurol, CH-8091 Zurich, Switzerland

[2] Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland

[3] Univ Zurich, Inst Pharmacol & Toxicol, Sect Psychopharmacol & Sleep Res, CH-8006 Zurich, Switzerland

来源：

LANCET | 2004年 / 363卷 / 9416期

关键词：

D O I：

10.1016/S0140-6736(04)15951-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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-DQBI*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.

引用

页码：1199 / 1200

页数：2

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