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GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 1995
H Ichinose, and
T Ohye, and
M Segawa, and
Y Nomura, and
K Endo, and
H Tanaka, and
S Tsuji, and
K Fujita, and
T Nagatsu
Institute for Comprehensive Medical Science, School of Medicine, Fujita Health University, Aichi, Japan.
We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.
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