Literature DB >> 8122887

Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia.

H Takahashi1, R A Levine, M P Galloway, B J Snow, D B Calne, T G Nygaard.   

Abstract

We report cerebrospinal fluid monoamine metabolite analyses and 6-[18F]fluoro-1-dopa positron emission tomography (FD-PET) from an asymptomatic carrier of the gene for dopa-responsive dystonia. Cerebrospinal fluid homovanillic acid, tetrahydrobiopterin, and neopterin concentrations were reduced in this man and in his affected children. His FD-PET was normal, as we have previously found in dopa-responsive dystonia. Neurological function and FD-PET may be normal despite marked abnormality in dopamine metabolism.

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Year:  1994        PMID： 8122887     DOI： 10.1002/ana.410350317

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  9 in total

Review 1.  Neurochemistry and defects of biogenic amine neurotransmitter metabolism.

Authors:  K Hyland
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

Review 2.  Neuroimaging biomarkers for Parkinson disease: facts and fantasy.

Authors:  Joel S Perlmutter; Scott A Norris
Journal:  Ann Neurol       Date:  2014-11-07       Impact factor: 10.422

Review 3.  Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.

Authors:  Ajith Cherian; Naveen Kumar Paramasivan; K P Divya
Journal:  Acta Neurol Belg       Date:  2021-01-16       Impact factor: 2.396

Review 4.  GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.

Authors:  T Nagatsu; H Ichinose
Journal:  Neurochem Res       Date:  1996-02       Impact factor: 3.996

5.  Aging modifies the effect of GCH1 RS11158026 on DAT uptake and Parkinson's disease clinical severity.

Authors:  Joseph Webb; Auriel A Willette
Journal:  Neurobiol Aging       Date:  2016-10-13       Impact factor: 4.673

Review 6.  Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease.

Authors:  T Nagatsu; H Ichinose
Journal:  Cell Mol Neurobiol       Date:  1999-02       Impact factor: 5.046

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.  GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

Authors:  Chunyou Cai; Wentao Shi; Zheng Zeng; Meiyun Zhang; Chao Ling; Lei Chen; Chunquan Cai; Benshu Zhang; Wei-Dong Li
Journal:  PLoS One       Date:  2013-06-06       Impact factor: 3.240

9.  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
  9 in total

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