KEGG   DISEASE: 進行性核上性麻痺
エントリ  
H00077                                                             
名称    
進行性核上性麻痺
  上位グループ
前頭側頭葉変性症 [DS:H00078]
概要    
Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, the scarcity of familial cases may lack of recognition of the variable phenotypic expression of PSP. One in every 100,000 Americans over the age of 60 have PSP and patients are usually middle-aged or elderly, and men are affected more often than women.
カテゴリ  
神経変性疾患
階層分類  
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
    H00077  進行性核上性麻痺
指定難病 [jp08407.html]
 H00077
パスウェイ 
hsa04010  MAPK signaling pathway
病因遺伝子 
(PSNP1) MAPT [HSA:4137] [KO:K04380]
コメント  
Disease class: tauopathy
Affected region: basal ganglia, brain stem, cerebellum
Microscopic lesion: tau positive inclusions
リンク   
ICD-11: 8A00.10
ICD-10: G23.1
MeSH: D013494
OMIM: 601104 260540
文献    
  著者
Williams DR, Lees AJ
  タイトル
Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges.
  雑誌
Lancet Neurol 8:270-9 (2009)
DOI:10.1016/S1474-4422(09)70042-0
文献    
  著者
Houghton DJ, Litvan I
  タイトル
Unraveling progressive supranuclear palsy: from the bedside back to the bench.
  雑誌
Parkinsonism Relat Disord 13 Suppl 3:S341-6 (2007)
DOI:10.1016/S1353-8020(08)70028-2
文献    
  著者
Dickson DW, Rademakers R, Hutton ML.
  タイトル
Progressive supranuclear palsy: pathology and genetics.
  雑誌
Brain Pathol 17:74-82 (2007)
DOI:10.1111/j.1750-3639.2007.00054.x
文献    
  著者
Pastor P, Tolosa E
  タイトル
Progressive supranuclear palsy: clinical and genetic aspects.
  雑誌
Curr Opin Neurol 15:429-37 (2002)
DOI:10.1097/00019052-200208000-00005
文献    
PMID:9029080 (PSNP1)
  著者
Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T
  タイトル
Genetic evidence for the involvement of tau in progressive supranuclear palsy.
  雑誌
Ann Neurol 41:277-81 (1997)
DOI:10.1002/ana.410410222

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