Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.

A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalised forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYT1 locus as being responsible for dystonia in this family.

[1]  C. Marsden,et al.  Validity and reliability of a rating scale for the primary torsion dystonias , 1985, Neurology.

[2]  Stanley Fahn,et al.  Human gene for torsion dystonia located on chromosome 9q32-q34 , 1989, Neuron.

[3]  M. Brin,et al.  Exclusion of the DYT1 locus in a non‐Jewish family with early‐onset dystonia , 1994, Movement disorders : official journal of the Movement Disorder Society.

[4]  S Fahn,et al.  Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation , 1994, Annals of neurology.

[5]  N Risch,et al.  Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. , 1992, American journal of human genetics.

[6]  N Risch,et al.  Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance , 1989, Annals of neurology.

[7]  A. Korczyn,et al.  Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance , 1990, Neurology.

[8]  R E Burke,et al.  The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. , 1994, American journal of human genetics.

[9]  J. Haines,et al.  A high-resolution linkage map of human 9q34.1. , 1993, Genomics.

[10]  J. Gusella,et al.  Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. , 1991, American journal of human genetics.

[11]  C. Marsden,et al.  Linkage analysis in British and French families with idiopathic torsion dystonia. , 1993, Brain : a journal of neurology.

[12]  N. Risch,et al.  Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34 , 1990, Annals of neurology.

[13]  N. Risch,et al.  A study of idiopathic torsion dystonia in a non‐Jewish family , 1994, Neurology.

[14]  G. Lathrop,et al.  Easy calculations of lod scores and genetic risks on small computers. , 1984, American journal of human genetics.

[15]  X. Breakefield,et al.  The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q , 1994, Clinical genetics.

[16]  G. Sjögren.  Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. , 1966, Acta neurologica Scandinavica.

[17]  L. Forsgren,et al.  Autosomal dominant torsion dystonia in a Swedish family. , 1988, Advances in neurology.

[18]  Stanley Fahn,et al.  Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q , 1993, Nature Genetics.