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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, * 
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.
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https://www.hal.inserm.fr/inserm-00343965
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Submitted on : Wednesday, December 20, 2017 - 6:41:32 PM
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Mélissa yana Frédéric, Fabienne Clot, Laura Cif, Arnaud Blanchard, Alexandra Dürr, et al.. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?. neurogenetics, Springer Verlag, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩. ⟨inserm-00343965⟩

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