title: Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
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.
authors.affiliation: INSERM, U827, Montpellier, France.
authors.forename: M Y
authors.initials: MY
authors.lastname: Frédéric
authors.forename: F
authors.initials: F
authors.lastname: Clot
authors.forename: L
authors.initials: L
authors.lastname: Cif
authors.forename: A
authors.initials: A
authors.lastname: Blanchard
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: I
authors.initials: I
authors.lastname: Vuillaume
authors.forename: G
authors.initials: G
authors.lastname: Lesca
authors.forename: A
authors.initials: A
authors.lastname: Kreisler
authors.forename: C
authors.initials: C
authors.lastname: Davin
authors.forename: T
authors.initials: T
authors.lastname: Besnard
authors.forename: F
authors.initials: F
authors.lastname: Rousset
authors.forename: D
authors.initials: D
authors.lastname: Thorel
authors.forename: C
authors.initials: C
authors.lastname: Saquet
authors.forename: D
authors.initials: D
authors.lastname: Mechin
authors.forename: L
authors.initials: L
authors.lastname: Ozelius
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: B
authors.initials: B
authors.lastname: Barroso
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.forename: V
authors.initials: V
authors.lastname: Chan
authors.forename: M
authors.initials: M
authors.lastname: Clanet
authors.forename: C
authors.initials: C
authors.lastname: Coubes
authors.forename: A
authors.initials: A
authors.lastname: Destee
authors.forename: K
authors.initials: K
authors.lastname: Nguyen
authors.forename: C
authors.initials: C
authors.lastname: Vial
authors.forename: M
authors.initials: M
authors.lastname: Vidailhet
authors.forename: J
authors.initials: J
authors.lastname: Xie
authors.forename: B
authors.initials: B
authors.lastname: Sablonniere
authors.forename: A
authors.initials: A
authors.lastname: Calender
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: A
authors.initials: A
authors.lastname: Roubertie
authors.forename: P
authors.initials: P
authors.lastname: Coubes
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: S
authors.initials: S
authors.lastname: Tuffery-Giraud
authors.forename: G
authors.initials: G
authors.lastname: Collod-Beroud
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D005602:France; D005787:Gene Frequency; D008040:Genetic Linkage; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human