Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

Hiroshi Ichinose, Hidehito Inagaki, Takahiro Suzuki, Tamae Ohye, Toshiharu Nagatsu

研究成果: Article査読

22 被引用数 (Scopus)

抄録

The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered. Copyright (C) 2000 Elsevier Science B.V.

本文言語English
ページ(範囲)107-110
ページ数4
ジャーナルBrain and Development
22
SUPPL. 1
DOI
出版ステータスPublished - 09-2000

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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