KEGG   DISEASE: H01177Help
エントリ  
H01177                                                             

名称    
乳児両側性線条体壊死;
Infantile bilateral striatal necrosis (IBSN)
パスウェイ 
RNA輸送
酸化的リン酸化
病因遺伝子 
NUP62 [HSA:23636] [KO:K14306]
MT-ATP6 [HSA:4508] [KO:K02126]
環境要因  
Human herpes virus-6 (HHV-6) infections in infants [VGNM:NC_001664]
コメント  
A report says oral biotin may have benefited.
リンク   
ICD-10: 
MeSH: 
OMIM: 
文献    
PMID:16786527 (description, gene)
  著者
Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M
  タイトル
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
  雑誌
Ann Neurol 60:214-22 (2006)
文献    
PMID:14718703 (description)
  著者
Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M
  タイトル
Infantile bilateral striatal necrosis maps to chromosome 19q.
  雑誌
Neurology 62:87-90 (2004)
文献    
PMID:12374138 (description, comment)
  著者
Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J
  タイトル
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
  雑誌
Neurology 59:983-9 (2002)
文献    
PMID:16198210 (description, environmental factor)
  著者
Murakami A, Morimoto M, Adachi S, Ishimaru Y, Sugimoto T
  タイトル
Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection.
  雑誌
Brain Dev 27:527-30 (2005)
文献    
PMID:7668837 (gene)
  著者
Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S
  タイトル
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
  雑誌
Ann Neurol 38:468-72 (1995)

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