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The p.Asp216His TOR1A allele effect is not found in the French population

Authors

  • Mélissa Yana Frédéric PhD,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université MONTPELLIER1, UFR Médecine, Montpellier, F-34000 France
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  • Fabienne Clot PhD,

    1. INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F-75013, France
    2. UPMC Univ Paris 06, UMR_S679, Paris, F-75005, France
    3. Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière, Paris, F-75013, France
    4. AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, F-75013, France
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  • Arnaud Blanchard MS,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université MONTPELLIER1, UFR Médecine, Montpellier, F-34000 France
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  • Claire-Marie Dhaenens PharmD, PhD,

    1. CHRU de Lille, UF de Neurobiologie, Centre de Biologie-Pathologie, Lille, F-59037, France
    2. INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F-59045, France
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  • Gaëtan Lesca MD, PhD,

    1. Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F-69437, France
    2. Université Claude Bernard Lyon 1, Villeurbanne, F-69622, France
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  • Laura Cif MD,

    1. CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie, Montpellier, F-34000, France
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  • Alexandra Dürr MD, PhD,

    1. INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F-75013, France
    2. UPMC Univ Paris 06, UMR_S679, Paris, F-75005, France
    3. Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière, Paris, F-75013, France
    4. AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, F-75013, France
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  • Marie Vidailhet MD, PhD,

    1. INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F-75013, France
    2. UPMC Univ Paris 06, UMR_S679, Paris, F-75005, France
    3. Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière, Paris, F-75013, France
    4. AP-HP, Hôpital Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F-75013, France
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  • Bernard Sablonniere MD, PhD,

    1. CHRU de Lille, UF de Neurobiologie, Centre de Biologie-Pathologie, Lille, F-59037, France
    2. INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F-59045, France
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  • Alain Calender MD, PhD,

    1. Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F-69437, France
    2. Université Claude Bernard Lyon 1, Villeurbanne, F-69622, France
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  • Maria Martinez PhD,

    1. INSERM, U563, Toulouse, F-31024, France
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  • Nicolas Molinari PhD,

    1. CHU Nîmes, Département d'Information Médicale, Nîmes, F-30025, France
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  • Alexis Brice MD,

    1. INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F-75013, France
    2. UPMC Univ Paris 06, UMR_S679, Paris, F-75005, France
    3. Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière, Paris, F-75013, France
    4. AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, F-75013, France
    5. AP-HP, Hôpital Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F-75013, France
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  • Mireille Claustres MD, PhD,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université MONTPELLIER1, UFR Médecine, Montpellier, F-34000 France
    3. CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France
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  • Sylvie Tuffery-Giraud PhD,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université MONTPELLIER1, UFR Médecine, Montpellier, F-34000 France
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  • Gwenaëlle Collod-Beroud PhD

    Corresponding author
    1. INSERM, U827, Montpellier, F-34000, France
    2. Université MONTPELLIER1, UFR Médecine, Montpellier, F-34000 France
    • INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, 34093 Montpellier Cedex 05, France
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  • Potential conflict of interest: None reported.

Abstract

DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society

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