Primary dystonia: is abnormal functional brain architecture linked to genotype?

Ann Neurol. 2002 Dec;52(6):853-6. doi: 10.1002/ana.10418.


The DYT1 dystonia mutation is associated with an abnormal metabolic brain network characterized by hypermetabolism of the basal ganglia, supplementary motor area, and the cerebellum. In this study, we quantified the activity of this network in carriers of other dystonia mutations to determine whether this functional abnormality is linked to genotype. The findings suggest that the DYT1 metabolic topography is not genotype specific and may be present in carriers of other dystonia mutations.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Analysis of Variance
  • Brain / metabolism*
  • Carrier Proteins / genetics
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / metabolism*
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones*
  • Prospective Studies
  • Tomography, Emission-Computed / methods


  • Carrier Proteins
  • Molecular Chaperones
  • TOR1A protein, human