| Literature DB >> 18322712 |
M Y Frédéric1, F Clot, L Cif, A Blanchard, A Dürr, I Vuillaume, G Lesca, A Kreisler, C Davin, T Besnard, F Rousset, D Thorel, C Saquet, D Mechin, L Ozelius, Y Agid, B Barroso, B Chabrol, V Chan, M Clanet, C Coubes, A Destee, K Nguyen, C Vial, M Vidailhet, J Xie, B Sablonniere, A Calender, A Brice, A Roubertie, P Coubes, M Claustres, S Tuffery-Giraud, G Collod-Beroud.
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.Entities:
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Year: 2008 PMID： 18322712 DOI： 10.1007/s10048-008-0123-7
Source DB: PubMed Journal: Neurogenetics ISSN： 1364-6745 Impact factor: 2.660