MISC

招待有り
2013年6月

ジストニア遺伝子とその機能解明

臨床神経学
  • 瓦井 俊孝
  • ,
  • 宮本 亮介
  • ,
  • 村上 永尚
  • ,
  • 小泉 英貴
  • ,
  • 小泉 英貴
  • ,
  • 佐光 亘
  • ,
  • 向井 洋平
  • ,
  • 佐藤 健太
  • ,
  • 松本 真一
  • ,
  • 坂本 崇
  • ,
  • 和泉 唯信
  • ,
  • 梶 龍兒

Vol.53
No.6
開始ページ
419
終了ページ
429
記述言語
日本語
掲載種別
記事・総説・解説・論説等(学術雑誌)
DOI
10.5692/clinicalneurol.53.419

Identification of causative genes for hereditary dystonia and elucidation of their functions are crucial for better understanding of dystonia pathogenesis. As seen in other hereditary neurologic disorders, intra- and inter-familial clinical variations have been demonstrated in hereditary dystonia. Asymptomatic carriers can be found due to alterations in penetrance, generally reduced in succeeding generations. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. It has been reported that effects of deep brain stimulation can vary significantly depending on genotype. Accumulation of genotype-outcome correlations would contribute to treatment decisions for dystonia patients.

リンク情報
DOI
https://doi.org/10.5692/clinicalneurol.53.419
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/23782819

エクスポート
BibTeX RIS