| H01293 | |
| H番号 | H01293 |
| 名称 | ナルコレプシー |
| 概要 | Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy is a rare and mainly sporadic disorder. Familial narcolepsy accounts for less than 10% of all narcolepsy cases, and causative mutations have not been identified to date. The discovery of hypocretin-1 (HCRT) deficiency shed light on the underlying pathophysiology of the disease. The hypocretin neurotransmission system was shown to play a major role in controlling vigilance states. Because of the strong HLA association, hypocretin deficiency is believed to be caused by an autoimmune attack. It has also been reported that a missense mutation in myelin oligodendrocyte glycoprotein (MOG) is the cause of narcolepsy. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (NRCLP1) HCRT [HSA:3060] [KO:K05246] (NRCLP7) MOG [HSA:4340] [KO:K17270] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | メタンフェタミン塩酸塩 [DR:D02242] クロミプラミン塩酸塩 [DR:D00811] メチルフェニデート塩酸塩 [DR:D01296] ペモリン [DR:D00744] モダフィニル [DR:D01832] |
| コメント | - |
| リンク | ICD-11: 7A20 ICD-10: G47.4 MeSH: D009290 OMIM: 161400 614250 |
| 文献 | PMID:21963829 著者 Kornum BR, Faraco J, Mignot E タイトル Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain. 雑誌 Curr Opin Neurobiol 21:897-903 (2011) DOI:10.1016/j.conb.2011.09.003 PMID:21748548 著者 Hirai N, Nishino S タイトル Recent advances in the treatment of narcolepsy. 雑誌 Curr Treat Options Neurol 13:437-57 (2011) DOI:10.1007/s11940-011-0137-6 PMID:10973318 (NRCLP1) 著者 Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E タイトル A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. 雑誌 Nat Med 6:991-7 (2000) DOI:10.1038/79690 PMID:21907016 (NRCLP7) 著者 Hor H, Bartesaghi L, Kutalik Z, Vicario JL, de Andres C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R タイトル A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. 雑誌 Am J Hum Genet 89:474-9 (2011) DOI:10.1016/j.ajhg.2011.08.007 |