Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

Authors

  • Roser Pons MD,

    Corresponding author
    1. First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece
    • Dr. Roser Pons, Agia Sofia Hospital, Thivon and Levadias Street, Athens 11527, Greece
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  • Mercedes Serrano MD, PhD,

    1. Department of Neuropediatrics, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
    2. Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
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  • Aida Ormazabal PhD,

    1. Department of Neuropediatrics, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
    2. Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
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  • Claudio Toma PhD,

    1. Department of Genetics, University of Barcelona, Institute of Biomedicine of the University of Barcelona (IBUB), Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
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  • Angels Garcia-Cazorla MD, PhD,

    1. Department of Neuropediatrics, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
    2. Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
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  • Estela Area PhD,

    1. Department of Neurology, Columbia University, New York, New York, USA
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  • Marta Ribasés PhD,

    1. Department of Psychiatry, Vall d'Hebron University Hospital, Barcelona, Spain
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  • Emmanuel Kanavakis MD,

    1. First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece
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  • Kaliopi Drakaki MD,

    1. First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece
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  • Aristotelis Giannakopoulos MD,

    1. First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece
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  • Irene Orfanou MD,

    1. First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece
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  • Sotiris Youroukos MD,

    1. First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece
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  • Bru Cormand PhD,

    1. Department of Genetics, University of Barcelona, Institute of Biomedicine of the University of Barcelona (IBUB), Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
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  • Rafael Artuch MD, PhD

    1. Department of Neuropediatrics, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
    2. Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain
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  • Potential conflict of interest: Nothing to Report.

Abstract

We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Response to levodopa was favorable though not dramatic. All patients were homozygous for a previously reported mutation (p.L236P). SNP haplotype analysis was consistent with a common ancestral mutation, thus indicating a founder effect in Greek patients with TH deficiency. © 2010 Movement Disorder Society

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