Commentary: Dopaminergic dysfunction in DYT1 dystonia

• Type of Material: Article
• Authors: Thomas Wichmann, Emory University
• Language: English
• Date: 2008-08-01
• Publisher: Elsevier: 12 months
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2008 Elsevier Inc. All rights reserved.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.expneurol.2008.04.020
• Title of Journal or Parent Work: Experimental Neurology
• ISSN: 0014-4886
• Volume: 212
• Issue: 2
• Start Page: 242
• End Page: 246
• Grant/Funding Information: Work on this review was supported by a grant from the Bachmann-Strauss foundation; and by an NIH/NCRR grant to the Yerkes National Primate Research Center (RR-000165).
• Keywords: PARKINSONS-DISEASE; EXERCISE-INDUCED DYSTONIA; PRIMARY TORSION DYSTONIA; LESCH-NYHAN-DISEASE; CYCLOHYDROLASE-I GENE; Science & Technology; NUCLEAR-ENVELOPE; Life Sciences & Biomedicine; Neurosciences; AUTOSOMAL DOMINANT INHERITANCE; DOPA-RESPONSIVE DYSTONIA; MUTANT TORSINA; Neurosciences & Neurology; TRANSGENIC MOUSE MODEL
• Research Categories: Biology, Neuroscience

Abstract

A three-base-pair deletion in the torsinA gene leads to generalized torsion dystonia (DYT1) in humans, an often devastating movement disorder in which voluntary movements are disrupted by sustained muscle spasms and abnormal limb posturing. In a recent issue of Experimental Neurology, Zhao et al. (2008) have provided a thorough behavioral, anatomic, and biochemical characterization of a mouse line that over-expresses human mutant torsinA, with particular emphasis on the possible role of dopaminergic dysfunction in these animals. This commentary provides an overview of the clinical and genetic features of the human disease and of the available transgenic mouse models for DYT1 dystonia, and discusses the evidence favoring the role of dopamine in the clinical manifestations of the disease.