2013年6月
ジストニア遺伝子とその機能解明
臨床神経学
- 巻
- Vol.53
- 号
- 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
- ID情報
-
- DOI : 10.5692/clinicalneurol.53.419
- ISSN : 1882-0654
- eISSN : 1882-0654
- PubMed ID : 23782819