A commentary on the utility of a new L-DOPA-responsive dystonia mouse model.

• Type of Material: Article
• Authors: Samuel J. Rose, Emory University; Ellen Hess, Emory University
• Language: English
• Date: 2016
• Publisher: Taylor & Francis
• Publication Version: Final Published Version
• Copyright Statement: © 2016 The Author(s). Published with license by Taylor & Francis Group, LLC.
• License: Creative Commons Attribution-Noncommercial 3.0 Unported
• Final Published Version (URL): http://dx.doi.org/10.1080/21675511.2015.1128617
• Title of Journal or Parent Work: Rare Diseases
• ISSN: 2167-5511
• Volume: 4
• Issue: 1
• Start Page: e1128617
• End Page: e1128617
• Grant/Funding Information: This work was supported by the United States National Institute of Health (NS088528) and the Pediatric Neurotransmitter Disease Association.
• Keywords: dopamine; neurogenetics; tyrosine hydroxylase; striatum; Basal ganglia
• Research Categories: Health Sciences, General; Biology, Neuroscience

Abstract

In a recent issue of Brain, we reported on the generation and characterization of a mouse model of the rare disease L-DOPA-responsive dystonia (DRD). Here, we discuss the utility of these mice for understanding broader disease processes and treatment strategies. Using specific experimental designs that either work "forward" from genetic etiology or "backward" from the symptomatic presentation, we discuss how our data and future work can be used to understand broader themes.