Expression of the early onset torsion dystonia gene (DYT1) in human brain

Sarah J. Augood, John B. Penney, Ingrid K. Friberg, Xandra O. Breakefield, Anne B. Young, Laurie J. Ozelius, David G. Standaert

Research output: Contribution to journalArticlepeer-review

98 Scopus citations


Early-onset torsion dystonia, an autosomal dominant disease associated with the DYT1 locus on 9q34, is the most frequent genetic form of dystonia. Recent work has revealed that the causative mutation in most cases is deletion of a glutamate residue from the carboxy terminal of torsinA, a 332 amino acid protein encoded by the DYT1 gene. To gain insight into how deletion of a single amino acid can produce such a profound movement disorder, we have mapped the expression of the DYT1 gene in normal human postmortem brain. DYT1 mRNA is highly enriched in the dopamine neurons of the substantia nigra pars compacta. Intense expression was also found in the cerebellum and hippocampal subfields. The prominent expression of the DYT1 gene within the substantia nigra pars compacta, which provides dopaminergic innervation to the basal ganglia, implicates a disturbance of dopaminergic function in the pathophysiology of early-onset torsion dystonia.

Original languageEnglish (US)
Pages (from-to)669-673
Number of pages5
JournalAnnals of neurology
Issue number5
StatePublished - May 1998
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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