Brain, Vol. 122, No. 1, 41-45,
January 1999
© 1999 Oxford University Press
DYT1 mutation in French families with idiopathic torsion dystonia
1 INSERM U289 and 2 Fédération de Neurologie, Hôpital de la Salpêtrière, 3 Service de Neuropédiatrie, Hôpital St Vincent de Paul and 4 Service de Neurologie, Hôpital St Antoine, Paris, France * Both authors contributed equally to the work
Correspondence to:
Dr A. Durr, INSERM U289, Hôpital de la Salpêtrière, 47 bd de l'Hôpital, 75651 Paris cedex 13, France
A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9 ± 4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population.
idiopathic torsion dystonia; Ashkenazi Jews; linkage disequilibrium; DYT1; torsin A
ITD = idiopathic torsion dystonia
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