Primary torsion dystonia: The search for genes is not over

P. R. Jarman, N. Del Grosso, E. M. Valente, B. Leube, E. Cassetta, A. R. Bentivoglio, H. M. Waddy, R. J. Uitti, D. M. Maraganore, A. Albanese, M. Frontali, G. Auburger, S. B. Bressman, N. W. Wood, T. G. Nygaard

Research output: Contribution to journalArticlepeer-review

49 Scopus citations


A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an 'intermediate dystonia' phenotype and for torticollis, named DYT6 and DYT7 respectively have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial 'non-DYT1' dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD.

Original languageEnglish (US)
Pages (from-to)395-397
Number of pages3
JournalJournal of Neurology Neurosurgery and Psychiatry
Issue number3
StatePublished - Sep 1999


  • Primary torsion dystonia

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health


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