Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

Ann Neurol. 1997 Oct;42(4):670-3. doi: 10.1002/ana.410420421.

Abstract

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Christianity*
  • Chromosomes, Human, Pair 8*
  • Dystonia Musculorum Deformans / ethnology*
  • Dystonia Musculorum Deformans / etiology
  • Dystonia Musculorum Deformans / genetics*
  • Ethnicity / genetics
  • Female
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Recombination, Genetic

Substances

  • Genetic Markers