Inheritance of idiopathic torsion dystonia among Jews.
Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1980, 47 patients were collected, of whom 40 were of European origin. In these European Jews, the ITD frequency was about 1:23 000 live births, which was five-fold greater than in Jews of Afro-Asian origin. Assuming that all cases fit the same genetic model, an X linked or a simple autosomal recessive model of inheritance did not agree well with our data. An autosomal dominant model with low penetrance could have accounted for our observations and would yield an ITD gene frequency in European Jews of 3 to 4:100 000. In view of the increased ages of their fathers, the isolated cases may have included some new mutations. Multifactorial inheritance was also possible. However, it may be inappropriate to assume that all cases have the same genetic basis, or even that all are inherited.
D004422:Dystonia Musculorum Deformans / Q000453:epidemiology / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007557:Israel; D007585:Jews; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D010641:Phenotype