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

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

748 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
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics

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10.1038/ng1194-236

Cite this

@article{34b6eba5337b4e529c8723ac8cc70d72,

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",

month = nov,

doi = "10.1038/ng1194-236",

language = "English",

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pages = "236--242",

journal = "Nature Genetics",

issn = "1061-4036",

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TY - JOUR

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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UR - https://www.scopus.com/pages/publications/0028151448#tab=citedBy

U2 - 10.1038/ng1194-236

DO - 10.1038/ng1194-236

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AN - SCOPUS:0028151448

SN - 1061-4036

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JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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