KEGG   DISEASE: パーキンソン症候群
エントリ  
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
階層分類  
ヒト疾患 [BR:jp08402]
 神経系疾患
  神経変性疾患
   H01600  パーキンソン症候群
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動障害
   8A00  パーキンソン症候群
    H01600  パーキンソン症候群
特定疾患 (難病) [jp08407.html]
 H01600
関連パスウェイ
hsa05022  Pathways of neurodegeneration
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]
環境要因  
MPTP [CPD:C04599]
Rotenone [CPD:C07593]
Maneb [CPD:C15231]
Paraquat [CPD:C14701]
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]
マザチコール塩酸塩水和物 [DR:D03264]
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]
ヒベンズ酸プロメタジン [DR:D08768]
リンク   
ICD-11: 8A00
ICD-10: G20 G21
MeSH: D020734
文献    
PMID:24092286 (description, drug)
  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
文献    
  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
文献    
  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
文献    
  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
文献    
PMID:19729209 (env_factor)
  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
文献    
  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
文献    
  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
文献    
  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
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