GTP CYCLOHYDROLASE-I GENE IN HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION

Authors
ICHINOSE H OHYE T SEGAWA M NOMURA Y ENDO K TANAKA H TSUJI S FUJITA K NAGATSU T
Citation
H. Ichinose et al., GTP CYCLOHYDROLASE-I GENE IN HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION, Neuroscience letters, 196(1-2), 1995, pp. 5-8
Citations number
20
Categorie Soggetti
Neurosciences
Journal title
Neuroscience letters → ACNP
ISSN journal
03043940
Volume
196
Issue
1-2
Year of publication
1995
Pages
5 - 8
Database
ISI
SICI code
0304-3940(1995)196:1-2<5:GCGIHP>2.0.ZU;2-P
Abstract
We previously reported four different mutations in the coding region o f GTP cyclohydrolase I(GCH-I) gene in patients with hereditary progres sive dystonia with marked diurnal fluctuation (HPD). We found two inde pendent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mut ations in the coding region of GCH-I gene.