Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects

Authors

  • Catherine Vaurs-Barrière PhD,

    1. Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France
    2. Univ Clermont 1, UFR Médecine, Génétique Médicale, Clermont-Ferrand, Lyon, France
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  • Marlène Deville BS,

    1. Service de Génétique Clinique Chromosomique et Moléculaire, CHU St Etienne, Saint-Etienne, Lyon, France
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  • Catherine Sarret MD,

    1. Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France
    2. Univ Clermont 1, UFR Médecine, Génétique Médicale, Clermont-Ferrand, Lyon, France
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  • Geneviève Giraud BS,

    1. Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France
    2. Univ Clermont 1, UFR Médecine, Génétique Médicale, Clermont-Ferrand, Lyon, France
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  • Vincent Des Portes MD, PhD,

    1. Centre de Référence des Déficiences Intellectuelles de Causes Rares, Service de Neurologie Pédiatrique, Hôpital Debrousse, Lyon, France
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  • José-Maria Prats-Viñas MD, PhD,

    1. Neuropeadiatria, Hospital de Cruces, Baracaldo, Spain
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  • Giuseppe De Michele MD,

    1. Dipartimento di Scienze Neurologiche Università di Napoli Federico II, Napoli, Italy
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  • Bernard Dan MD, PhD,

    1. Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium
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  • Angela F. Brady MD,

    1. Clinical Genetics, Kennedy-Galton Centre, NW Thames Regional Genetics Service, Middlesex, United Kingdom
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  • Odile Boespflug-Tanguy MD, PhD,

    Corresponding author
    1. Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France
    2. Univ Clermont 1, UFR Médecine, Génétique Médicale, Clermont-Ferrand, Lyon, France
    3. Centre de Référence des Leucodystrophies, Service de Génétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France
    • GReD UMR INSERM U931 CNRS 6247, Faculté de Médecine 28, Place Henri Dunant, F-63000 Clermont-Ferrand, France
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  • Renaud Touraine MD, PhD

    1. Service de Génétique Clinique Chromosomique et Moléculaire, CHU St Etienne, Saint-Etienne, Lyon, France
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  • Potential conflict of interest: Nothing to report.

Abstract

Pelizaeus–Merzbacher Disease is an X-linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology. The 12 MCT8 mutated patients express initially a Pelizaeus–Merzbacher-Like disease phenotype with a latter unusual improvement of magnetic resonance imaging white matter signal despite absence of clinical progression. This observation underlines the interest of determining both free T3 and free T4 serum concentrations to screen for MCT8 mutations in young patients (<3 y) with a severe Pelizaeus–Merzbacher-Like disease presentation or older severe mentally retarded male patients with “hypomyelinated” regions. Ann Neurol 2009;65:114–118

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