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

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

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)107-110
Number of pages4
JournalBrain and Development
Volume22
Issue numberSUPPL. 1
Publication statusPublished - 09-2000

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease'. Together they form a unique fingerprint.

  • Cite this