KEGG   DISEASE: 運動失調・企図振戦および筋緊張低下症候群
エントリ  
H02552                                                             
名称    
運動失調・企図振戦および筋緊張低下症候群
概要    
Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is expressed in the developing nervous system.
カテゴリ  
神経系疾患
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
   8A03  失調性障害
    H02552  運動失調・企図振戦および筋緊張低下症候群
病因遺伝子 
POU4F1 [HSA:5457] [KO:K09366]
リンク   
ICD-11: 8A03.1Y
OMIM: 619352
文献    
  著者
Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE
  タイトル
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
  雑誌
Hum Mutat 42:685-693 (2021)
DOI:10.1002/humu.24201
文献    
PMID:8876243
  著者
Xiang M, Gan L, Zhou L, Klein WH, Nathans J
  タイトル
Targeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling.
  雑誌
Proc Natl Acad Sci U S A 93:11950-5 (1996)
DOI:10.1073/pnas.93.21.11950
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