Literature DB >> 15133828

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

Akio Kikuchi1, Atsushi Takeda, Kazuo Fujihara, Teiko Kimpara, Yusei Shiga, Hiroaki Tanji, Makiko Nagai, Hiroshi Ichinose, Fumi Urano, Nobuyuki Okamura, Hiroyuki Arai, Yasuto Itoyama.   

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. Copyright 2003 Movement Disorder Society

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Year:  2004        PMID： 15133828     DOI： 10.1002/mds.10712

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  10 in total

1.  Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

Authors:  Ilaria Guella; Holly E Sherman; Silke Appel-Cresswell; Alex Rajput; Ali H Rajput; Matthew J Farrer
Journal:  Brain       Date:  2014-12-13       Impact factor: 13.501

2.  Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  Joanne Terbeek; Sylvia Hermans; Koen Van Laere; Wim Vandenberghe
Journal:  Brain       Date:  2014-11-28       Impact factor: 13.501

3.  Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.

Authors:  Juei-Jueng Lin; Chin-Song Lu; Chon-Haw Tsai
Journal:  J Neurol       Date:  2017-12-30       Impact factor: 4.849

Review 4.  Parkinsonism and inborn errors of metabolism.

Authors:  A Garcia-Cazorla; S T Duarte
Journal:  J Inherit Metab Dis       Date:  2014-06-07       Impact factor: 4.982

5.  Dyskinesias as a limiting factor in the treatment of Segawa disease.

Authors:  Eduardo López-Laso; Katrin Beyer; Thomas Opladen; Rafael Artuch; Rachel Saunders-Pullman
Journal:  Pediatr Neurol       Date:  2012-06       Impact factor: 3.372

6.  A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.

Authors:  Subhajit Giri; Tufan Naiya; Shubhrajit Roy; Gautami Das; Gurusidheshwar M Wali; Shyamal Kumar Das; Kunal Ray; Jharna Ray
Journal:  J Mol Neurosci       Date:  2019-03-25       Impact factor: 3.444

Review 7.  Clinical spectrum of dopa-responsive dystonia and related disorders.

Authors:  Woong-Woo Lee; Beom Seok Jeon
Journal:  Curr Neurol Neurosci Rep       Date:  2014-07       Impact factor: 5.081

8.  Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians.

Authors:  Jirat Chenbhanich; Jirada Sringean; Roongroj Bhidayasiri
Journal:  J Mov Disord       Date:  2017-04-18

9.  Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.

Authors:  Takafumi Hasegawa; Tatsuhiko Hosaka; Ryuhei Harada; Ichiro Kawahata; Kyoko Hoshino; Naoto Sugeno; Akio Kikuchi; Masashi Aoki
Journal:  F1000Res       Date:  2021-05-07

10.  Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  Niccolò E Mencacci; Ioannis U Isaias; Martin M Reich; Christos Ganos; Vincent Plagnol; James M Polke; Jose Bras; Joshua Hersheson; Maria Stamelou; Alan M Pittman; Alastair J Noyce; Kin Y Mok; Thomas Opladen; Erdmute Kunstmann; Sybille Hodecker; Alexander Münchau; Jens Volkmann; Samuel Samnick; Katie Sidle; Tina Nanji; Mary G Sweeney; Henry Houlden; Amit Batla; Anna L Zecchinelli; Gianni Pezzoli; Giorgio Marotta; Andrew Lees; Paulo Alegria; Paul Krack; Florence Cormier-Dequaire; Suzanne Lesage; Alexis Brice; Peter Heutink; Thomas Gasser; Steven J Lubbe; Huw R Morris; Pille Taba; Sulev Koks; Elisa Majounie; J Raphael Gibbs; Andrew Singleton; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2014-07-02       Impact factor: 13.501
  10 in total

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