KEGG   DISEASE: 若年性原発性側索硬化症
エントリ  
H00970                                                             
名称    
若年性原発性側索硬化症
概要    
Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral sclerosis  is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2.
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
  運動ニューロン疾患または関連症
   8B60  運動ニューロン疾患
    H00970  若年性原発性側索硬化症
指定難病 [jp08407.html]
 H00970
病因遺伝子 
ALS2 [HSA:57679] [KO:K04575]
リンク   
ICD-11: 8B60.4
MeSH: C536416
OMIM: 606353
文献    
  著者
Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT
  タイトル
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
  雑誌
Brain 129:1710-9 (2006)
DOI:10.1093/brain/awl104
文献    
  著者
Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE
  タイトル
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
  雑誌
Neurochem Int 51:74-84 (2007)
DOI:10.1016/j.neuint.2007.04.010
文献    
PMID:2812336
  著者
Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M
  タイトル
Primary lateral sclerosis in a child.
  雑誌
Neurology 39:1530-2 (1989)
DOI:10.1212/WNL.39.11.1530
文献    
PMID:8719747
  著者
Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T
  タイトル
Familial childhood primary lateral sclerosis with associated gaze paresis.
  雑誌
Neuropediatrics 26:313-9 (1995)
DOI:10.1055/s-2007-979781
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