GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

Hiroshi Ichinose; Tamae Ohye; Masaya Segawa; Yoshiko Nomura; Kotaro Endo; Hajime Tanaka; Shoji Tsuji; Keisuke Fujita; Toshiharu Nagatsu

doi:10.1016/0304-3940(95)11820-M

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

Hiroshi Ichinose, Tamae Ohye, Masaya Segawa, Yoshiko Nomura, Kotaro Endo, Hajime Tanaka, Shoji Tsuji, Keisuke Fujita, Toshiharu Nagatsu

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Abstract

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.

Original language	English
Pages (from-to)	5-8
Number of pages	4
Journal	Neuroscience Letters
Volume	196
Issue number	1-2
DOIs	https://doi.org/10.1016/0304-3940(95)11820-M
Publication status	Published - 18-08-1995

All Science Journal Classification (ASJC) codes

General Neuroscience

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10.1016/0304-3940(95)11820-M

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title = "GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation",

abstract = "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.",

author = "Hiroshi Ichinose and Tamae Ohye and Masaya Segawa and Yoshiko Nomura and Kotaro Endo and Hajime Tanaka and Shoji Tsuji and Keisuke Fujita and Toshiharu Nagatsu",

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TY - JOUR

T1 - GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

AU - Ichinose, Hiroshi

AU - Ohye, Tamae

AU - Segawa, Masaya

AU - Nomura, Yoshiko

AU - Endo, Kotaro

AU - Tanaka, Hajime

AU - Tsuji, Shoji

AU - Fujita, Keisuke

AU - Nagatsu, Toshiharu

N1 - Funding Information: This work was supported by a Grant-in-Aid from theHereditary progressive dystonia with marked diurnal fluctuation, Ministry of Education, Science, and Culture of Japan (tIon R. Eldridge and S. Fahn (Eds.), Advances in Neurology Vol.

PY - 1995/8/18

Y1 - 1995/8/18

N2 - 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.

AB - 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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GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

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