Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report

Akio Kikuchi; Atsushi Takeda; Kazuo Fujihara; Teiko Kimpara; Yusei Shiga; Hiroaki Tanji; Makiko Nagai; Hiroshi Ichinose; Fumi Urano; Nobuyuki Okamura; Hiroyuki Arai; Yasuto Itoyama

doi:10.1002/mds.10712

Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report

Akio Kikuchi, Atsushi Takeda, Kazuo Fujihara, Teiko Kimpara, Yusei Shiga, Hiroaki Tanji, Makiko Nagai, Hiroshi Ichinose, Fumi Urano, Nobuyuki Okamura, Hiroyuki Arai, Yasuto Itoyama

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

19 Citations (Scopus)

Abstract

We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.

Original language	English
Pages (from-to)	590-593
Number of pages	4
Journal	Movement Disorders
Volume	19
Issue number	5
DOIs	https://doi.org/10.1002/mds.10712
Publication status	Published - 2004 May 1

Keywords

Adult-onset
Arg(184)His mutant
Dopa-responsive dystonia with parkinsonism
GTP cyclohydrolase I gene
Hyperphenylalaninemia

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Kikuchi, A., Takeda, A., Fujihara, K., Kimpara, T., Shiga, Y., Tanji, H., Nagai, M., Ichinose, H., Urano, F., Okamura, N., Arai, H., & Itoyama, Y. (2004). Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report. Movement Disorders, 19(5), 590-593. https://doi.org/10.1002/mds.10712

Kikuchi, A, Takeda, A, Fujihara, K, Kimpara, T, Shiga, Y, Tanji, H, Nagai, M, Ichinose, H, Urano, F, Okamura, N, Arai, H & Itoyama, Y 2004, 'Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report', Movement Disorders, vol. 19, no. 5, pp. 590-593. https://doi.org/10.1002/mds.10712

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abstract = "We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.",

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author = "Akio Kikuchi and Atsushi Takeda and Kazuo Fujihara and Teiko Kimpara and Yusei Shiga and Hiroaki Tanji and Makiko Nagai and Hiroshi Ichinose and Fumi Urano and Nobuyuki Okamura and Hiroyuki Arai and Yasuto Itoyama",

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doi = "10.1002/mds.10712",

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T1 - Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism

T2 - A case report

AU - Kikuchi, Akio

AU - Takeda, Atsushi

AU - Fujihara, Kazuo

AU - Kimpara, Teiko

AU - Shiga, Yusei

AU - Tanji, Hiroaki

AU - Nagai, Makiko

AU - Ichinose, Hiroshi

AU - Urano, Fumi

AU - Okamura, Nobuyuki

AU - Arai, Hiroyuki

AU - Itoyama, Yasuto

PY - 2004/5/1

Y1 - 2004/5/1

N2 - We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.

AB - We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.

KW - Adult-onset

KW - Arg(184)His mutant

KW - Dopa-responsive dystonia with parkinsonism

KW - GTP cyclohydrolase I gene

KW - Hyperphenylalaninemia

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Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report

Abstract

Keywords

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