Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Hiroshi Ichinose; Tamae Ohye; Ei ichi Takahashi; Naohiko Seki; Tada aki Hori; Masaya Segawa; Yoshiko Nomura; Kotaro Endo; Hajime Tanaka; Shoji Tsuji; Keisuke Fujita; Toshiharu Nagatsu

doi:10.1038/ng1194-236

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Hiroshi Ichinose, Tamae Ohye, Ei ichi Takahashi, Naohiko Seki, Tada aki Hori, Masaya Segawa, Yoshiko Nomura, Kotaro Endo, Hajime Tanaka, Shoji Tsuji, Keisuke Fujita, Toshiharu Nagatsu

Faculty of Medical Technology

Research output: Contribution to journal › Article › peer-review

702 Citations (Scopus)

Abstract

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1–q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.

Original language	English
Pages (from-to)	236-242
Number of pages	7
Journal	Nature Genetics
Volume	8
Issue number	3
DOIs	https://doi.org/10.1038/ng1194-236
Publication status	Published - 11-1994

All Science Journal Classification (ASJC) codes

Genetics

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10.1038/ng1194-236

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title = "Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene",

abstract = "Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1–q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.",

author = "Hiroshi Ichinose and Tamae Ohye and Takahashi, {Ei ichi} and Naohiko Seki and Hori, {Tada aki} and Masaya Segawa and Yoshiko Nomura and Kotaro Endo and Hajime Tanaka and Shoji Tsuji and Keisuke Fujita and Toshiharu Nagatsu",

year = "1994",

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doi = "10.1038/ng1194-236",

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T1 - Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

AU - Ichinose, Hiroshi

AU - Ohye, Tamae

AU - Takahashi, Ei ichi

AU - Seki, Naohiko

AU - Hori, Tada aki

AU - Segawa, Masaya

AU - Nomura, Yoshiko

AU - Endo, Kotaro

AU - Tanaka, Hajime

AU - Tsuji, Shoji

AU - Fujita, Keisuke

AU - Nagatsu, Toshiharu

PY - 1994/11

Y1 - 1994/11

N2 - Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1–q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.

AB - Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1–q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Abstract

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