Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Mélissa Yana Frédéric; Fabienne Clot; Laura Cif; Arnaud Blanchard; Alexandra Dürr; Isabelle Vuillaume; Gaetan Lesca; Alexandre Kreisler; Caroline Davin; Thomas Besnard; Francis Rousset; Delphine Thorel; Céline Saquet; Deborah Mechin; Laurie Ozelius; Yves Agid; Bruno Barroso; Brigitte Chabrol; Victor Chan; Michel Clanet; Christine Coubes; Alain Destee; Karine Nguyen; Chrisophe Vial; Marie Vidailhet; Jing Xie; Bernard Sablonniere; Alain Calender; Alexis Brice; Agathe Roubertie; Philippe Coubes; Mireille Claustres; Sylvie Tuffery-Giraud; Gwenaëlle Collod-Beroud

doi:10.1007/s10048-008-0123-7

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Mélissa Yana Frédéric ¹ Fabienne Clot ^{2, 3} Laura Cif ⁴ Arnaud Blanchard ¹ Alexandra Dürr ^{2, 3} Isabelle Vuillaume ⁵ Gaetan Lesca ^{6, 7} Alexandre Kreisler ⁸ Caroline Davin ¹ Thomas Besnard ¹ Francis Rousset ¹ Delphine Thorel ¹ Céline Saquet ¹ Deborah Mechin ¹ Laurie Ozelius ⁹ Yves Agid ^{2, 3} Bruno Barroso ¹⁰ Brigitte Chabrol ¹¹ Victor Chan ¹² Michel Clanet ¹⁰ Christine Coubes ¹³ Alain Destee ⁸ Karine Nguyen ¹⁴ Chrisophe Vial ¹⁵ Marie Vidailhet ^{2, 3} Jing Xie ¹⁶ Bernard Sablonniere ⁵ Alain Calender ^{6, 7} Alexis Brice ^{2, 3} Agathe Roubertie ¹⁷ Philippe Coubes ⁴ Mireille Claustres ¹ Sylvie Tuffery-Giraud ¹ Gwenaëlle Collod-Beroud ^{1, *}

* Auteur correspondant

1 Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques

2 Neurologie et thérapeutique expérimentale

3 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]

4 Neurochirurgie [Hôpital Gui de Chauliac]

5 Centre de Biologie-Pathologie

6 UCBL - Université Claude Bernard Lyon 1

7 Service de Génétique Moléculaire et Clinique

8 Noyaux gris centraux

9 Department of Genetics and Genome Sciences

10 Service de neurologie

11 Service de Neuropédiatrie

12 Service de neurologie

13 Service de Génétique Clinique

14 Département de génétique médicale [Hôpital de la Timone - APHM]

15 Service d'Electroneuromyographie et Pathologie Neuromusculaires

16 Service de neurologie

17 Service de Neuropédiatrie

Abstract : Early onset torsion dystonia are rare movement disorders. Molecular defect is known for only a subgroup, consisting of a unique and recurrent mutation in the TOR1A gene. We undertook a nationwide census of French TOR1A-mutation carriers and the assessment of clinical associated signs. Overall, 53 index cases and 104 relatives were studied and haplotypes linked to the mutation constructed. The previously reported Ashkenazi-Jewish haplotype was found in 11 families with the remainder carrying distinct haplotypes suggesting independent mutation events. This study demonstrates the scarcity of this disease in France with estimated disease frequency of 0.13:100,000 and mutation frequency of 0.17:100,000.

Type de document :

Article dans une revue

neurogenetics, Springer Verlag, 2008, 9 (2), pp.143-50. 〈10.1007/s10048-008-0123-7〉

Domaine :

Sciences du Vivant [q-bio] / Génétique

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http://www.hal.inserm.fr/inserm-00343965
Contributeur : Gwenaëlle Collod-Beroud <>
Soumis le : mercredi 20 décembre 2017 - 18:41:32
Dernière modification le : vendredi 31 août 2018 - 08:47:30

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Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

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