TY - JOUR
T1 - Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease
AU - Ichinose, Hiroshi
AU - Inagaki, Hidehito
AU - Suzuki, Takahiro
AU - Ohye, Tamae
AU - Nagatsu, Toshiharu
N1 - Funding Information:
This work was supported by grants-in-aid from the Ministry of Health and Welfare and from Ministry of Education, Science, Sports and Culture of Japan.
PY - 2000/9
Y1 - 2000/9
N2 - 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.
AB - 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.
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U2 - 10.1016/s0387-7604(00)00136-4
DO - 10.1016/s0387-7604(00)00136-4
M3 - Article
C2 - 10984669
AN - SCOPUS:0033846461
SN - 0387-7604
VL - 22
SP - 107
EP - 110
JO - Brain and Development
JF - Brain and Development
IS - SUPPL. 1
ER -