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

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.

KEYWORDS:

• Basal ganglia
• dopamine
• neurogenetics
• striatum
• tyrosine hydroxylase

This article refers to:

Abbreviations

DRD	=	L-DOPA-responsive dystonia
GCH1	=	GTP cyclohydrolase 1
L-DOPA	=	L-3,4-dihydroxyphenylalanine
TH	=	tyrosine hydroxylase

Disclosure of potential conflicts of interest

No potential conflicts of interest were disclosed.

Funding

This work was supported by the United States National Institute of Health (NS088528) and the Pediatric Neurotransmitter Disease Association.