Literature DB >> 15389992

Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.

Yoshiaki Furukawa1, James J Filiano, Stephen J Kish.   

Abstract

Amantadine suppressed severe levodopa-induced choreic dyskinesia, which developed at initiation of levodopa therapy, in two siblings manifesting dystonia with motor delay phenotype of GTP cyclohydrolase I deficiency caused by compound heterozygous GCH1 mutations. Our finding suggests a beneficial effect of amantadine on this type of dyskinesia frequently observed in relatively severe dopamine-deficient metabolic disorders. (c) 2004 Movement Disorder Society.

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Year:  2004        PMID： 15389992     DOI： 10.1002/mds.20194

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


  6 in total

1.  Common and rare GCH1 variants are associated with Parkinson's disease.

Authors:  Uladzislau Rudakou; Bouchra Ouled Amar Bencheikh; Jennifer A Ruskey; Lynne Krohn; Sandra B Laurent; Dan Spiegelman; Christopher Liong; Stanley Fahn; Cheryl Waters; Oury Monchi; Edward A Fon; Yves Dauvilliers; Roy N Alcalay; Nicolas Dupré; Ziv Gan-Or
Journal:  Neurobiol Aging       Date:  2018-09-15       Impact factor: 4.673

Review 2.  Dopa-responsive dystonia--clinical and genetic heterogeneity.

Authors:  Subhashie Wijemanne; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2015-06-23       Impact factor: 42.937

3.  Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

Authors:  Woong-Woo Lee; Beomseok Jeon; Ryul Kim
Journal:  J Korean Med Sci       Date:  2018-05-24       Impact factor: 2.153

4.  Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review.

Authors:  Shubhankar Mishra; Ashok K Mallick; Debasish Panigrahy; Priyabrata Nayak; Nihar R Biswal
Journal:  J Pediatr Neurosci       Date:  2021-01-19

5.  Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.

Authors:  Yun Chen; Kaiyu Liu; Zailan Yang; Yaozhou Wang; Hao Zhou
Journal:  Front Genet       Date:  2022-07-13       Impact factor: 4.772

6.  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
  6 in total

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