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A prepro-orexin gene polymorphism is associated with narcolepsy.

作者信息

Gencik M, Dahmen N, Wieczorek S, Kasten M, Bierbrauer J, Anghelescu I, Szegedi A, Menezes Saecker A M, Epplen J T

机构信息

Department of Molecular Human Genetics, Ruhr-University, Bochum, Germany.

出版信息

Neurology. 2001 Jan 9;56(1):115-7. doi: 10.1212/wnl.56.1.115.

DOI:10.1212/wnl.56.1.115
PMID:11148249
Abstract

The orexin (hypocretin) neurotransmitter system was recently shown to be directly involved in the pathogenesis of narcolepsy in two animal models. Furthermore, decreased levels of orexin A in the CSF were shown in narcoleptic patients. To define any genetic contribution of orexin to the etiology of narcolepsy, the authors screened the entire prepro-orexin gene for mutations or polymorphisms in 133 patients suffering from narcolepsy. They report an association of a rare polymorphism in the prepro-orexin gene with narcolepsy in a cohort of 178 patients.

摘要

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