EVIDENCE FOR DYT7 BEING A COMMON-CAUSE OF CERVICAL DYSTONIA (TORTICOLLIS) IN CENTRAL-EUROPE

Adult-onset focal idiopathic torsion dystonias (AFITD), such as tortic ollis, have a prevalence similar to that of multiple sclerosis and usu ally seem sporadic, Only recently has one large AFITD pedigree ''K'' w ith autosomal dominant inheritance and reduced penetrance from Northwe st Germany provided the opportunity to identify a gene locus on chromo some 18p. We have now tested the relevance of this DYT7 gene locus in a collective of 18 nuclear AFITD families from Central Europe who were genotyped with chromosome 18p microsatellites, In three families, the affected relatives did not share a chromosome 18p haplotype, suggesti ng locus heterogeneity in AFITD. In the remaining 15 families, signifi cant allelic association was observed for marker D18S1098, This result suggests that DYT7 is a common cause for AFITD at least in Central Eu rope, that many patients are descended from a common ancestor, and tha t the DYT7 gene is mapped in a 4.4 centimorgan subregion of chromosome 18p. (C) 1997 Wiley-Liss, Inc.