| H01600 | |
| H番号 | H01600 |
| 名称 | パーキンソン症候群 |
| 概要 | Parkinsonian syndromes (PS) are multisystemic diseases that produce not only motor and cognitive function impairment, but also other disorders that require the intervention of specialists other than the neurologist. PS include idiopathic Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and vascular Parkinsonism (VaP), among other rarer causes of parkinsonism. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | SNCA [HSA:6622] [KO:K04528] LRRK2 [HSA:120892] [KO:K08844] Parkin [HSA:5071] [KO:K04556] PINK1 [HSA:65018] [KO:K05688] DJ-1 [HSA:11315] [KO:K05687] ATP13A2 [HSA:23400] [KO:K13526] SYNJ1 [HSA:8867] [KO:K20279] DNAJC13 [HSA:23317] [KO:K09533] VPS13C [HSA:54832] [KO:K19525] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | アマンタジン塩酸塩 [DR:D00777] ビペリデン塩酸塩 [DR:D02246] 乳酸ビペリデン [DR:D02247] レボドパ [DR:D00059] プロメタジンメチレンジサリチル酸塩 [DR:D03290] ブロモクリプチンメシル酸塩 [DR:D00780] トリヘキシフェニジル塩酸塩 [DR:D00787] レボドパ・カルビドパ水和物 [DR:D00253] レボドパ・ベンセラジド塩酸塩 [DR:D02135] ピロヘプチン塩酸塩 [DR:D01231] アトロピン硫酸塩水和物 [DR:D02069] スコポラミン臭化水素酸塩水和物 [DR:D02071] プロメタジン塩酸塩 [DR:D00480] プロメタジンヒベンズ酸塩 [DR:D08768] マザチコール塩酸塩水和物 [DR:D03264] |
| コメント | - |
| リンク | ICD-11: 8A00 ICD-10: G20 G21 MeSH: D020734 |
| 文献 | PMID:24092286 著者 Williams DR, Litvan I タイトル Parkinsonian syndromes. 雑誌 Continuum (Minneap Minn) 19:1189-212 (2013) DOI:10.1212/01.CON.0000436152.24038.e0 PMID:18267242 著者 Bonifati V タイトル Genetics of parkinsonism. 雑誌 Parkinsonism Relat Disord 13 Suppl 3:S233-41 (2007) DOI:10.1016/S1353-8020(08)70008-7 PMID:15033141 著者 Pezzoli G, Canesi M, Galli C タイトル An overview of parkinsonian syndromes: data from the literature and from an Italian data-base. 雑誌 Sleep Med 5:181-7 (2004) DOI:10.1016/j.sleep.2003.10.009 PMID:18787878 著者 Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wullner U, Gasser T タイトル Genes associated with Parkinson syndrome. 雑誌 J Neurol 255 Suppl 5:8-17 (2008) DOI:10.1007/s00415-008-5005-2 PMID:19729209 著者 Cicchetti F, Drouin-Ouellet J, Gross RE タイトル Environmental toxins and Parkinson's disease: what have we learned from pesticide-induced animal models? 雑誌 Trends Pharmacol Sci 30:475-83 (2009) DOI:10.1016/j.tips.2009.06.005 PMID:23804577 著者 Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, Oostra BA, Barone P, Wang J, Bonifati V タイトル Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 雑誌 Hum Mutat 34:1208-15 (2013) DOI:10.1002/humu.22373 PMID:25186792 著者 Appel-Cresswell S, Rajput AH, Sossi V, Thompson C, Silva V, McKenzie J, Dinelle K, McCormick SE, Vilarino-Guell C, Stoessl AJ, Dickson DW, Robinson CA, Farrer MJ, Rajput A タイトル Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. 雑誌 Mov Disord 29:1684-7 (2014) DOI:10.1002/mds.26019 PMID:26942284 著者 Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A タイトル Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. 雑誌 Am J Hum Genet 98:500-13 (2016) DOI:10.1016/j.ajhg.2016.01.014 |