Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol

Ann Neurol. 1998 Sep;44(3):394-8. doi: 10.1002/ana.410440318.

Abstract

The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 8
  • Chromosomes, Human, Pair 9
  • DNA Mutational Analysis
  • Dystonia Musculorum Deformans / diagnosis
  • Dystonia Musculorum Deformans / genetics*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Italy
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Sequence Deletion

Substances

  • Genetic Markers