KEGG   DISEASE: トゥーレット症候群
エントリ  
H00862                                                             
名称    
トゥーレット症候群
概要    
Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated with TS. The SLITRK1 gene is expressed in brain regions and it appears to play a role in dendritic growth. Another possible rare genetic cause of TS is a mutation in the HDC gene. The HDC gene encodes for L-histidine decarboxylase, which is the rate-limiting enzyme that catalyzes the biosynthesis of histamine from histidine.
カテゴリ  
精神及び行動の障害
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
   8A05  チック症
    H00862  トゥーレット症候群
パスウェイ 
hsa00340  Histidine metabolism
病因遺伝子 
SLITRK1 [HSA:114798] [KO:K25832]
HDC [HSA:3067] [KO:K01590]
リンク   
ICD-11: 8A05.00
ICD-10: F95.2
MeSH: D005879
OMIM: 137580
文献    
  著者
State MW
  タイトル
The genetics of Tourette disorder.
  雑誌
Curr Opin Genet Dev 21:302-9 (2011)
DOI:10.1016/j.gde.2011.01.007
文献    
  著者
Bloch M, State M, Pittenger C
  タイトル
Recent advances in Tourette syndrome.
  雑誌
Curr Opin Neurol 24:119-25 (2011)
DOI:10.1097/WCO.0b013e328344648c
文献    
PMID:16224024 (SLITRK1)
  著者
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW
  タイトル
Sequence variants in SLITRK1 are associated with Tourette's syndrome.
  雑誌
Science 310:317-20 (2005)
DOI:10.1126/science.1116502
文献    
PMID:20445167 (HDC)
  著者
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW
  タイトル
L-histidine decarboxylase and Tourette's syndrome.
  雑誌
N Engl J Med 362:1901-8 (2010)
DOI:10.1056/NEJMoa0907006
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