Primary dystonia: is abnormal functional brain architecture linked to genotype? Academic Article uri icon

Overview

abstract

  • 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 date

  • December 1, 2002

Research

keywords

  • Brain
  • Dystonic Disorders
  • Molecular Chaperones

Identity

Scopus Document Identifier

  • 0036894150

Digital Object Identifier (DOI)

  • 10.1002/ana.10418

PubMed ID

  • 12447944

Additional Document Info

volume

  • 52

issue

  • 6