A prepro-orexin gene polymorphism is associated with narcolepsy

被引:49
作者
Gencik, M
Dahmen, N
Wieczorek, S
Kasten, M
Bierbrauer, J
Anghelescu, I
Szegedi, A
Saecker, AMM
Epplen, JT
机构
[1] Ruhr Univ Bochum, St Josef Hosp, Dept Human Mol Genet, D-44780 Bochum, Germany
[2] Ruhr Univ Bochum, St Josef Hosp, Neurol Klin, D-44780 Bochum, Germany
[3] Univ Mainz, Psychiat Klin, D-6500 Mainz, Germany
关键词
D O I
10.1212/WNL.56.1.115
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 in 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.
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页码:115 / 117
页数:3
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