Mouse Models of PNKD
Paroxysmal nonkinesigenic dyskinesia (PNKD, DYT8) is a highly penetrant autosomal-dominant episodic movement disorder characterized by bouts of mainly hyperkinetic involuntary movements precipitated by alcohol, coffee, stress, and fatigue. Point mutations (A7V, A9V, or A33P) in PNKD on Chr. 2q33-q35 are responsible for PNKD. Upon intraperitoneal administration of ethanol or caffeine, mice expressing a mutant Pnkd transgene (Tg) exhibit dyskinesias characterized by severe axial and appendicular dyskinesias, nigrostriatal neurotransmission deficits, reduced extracellular dopamine (DA) levels in the striatum, and increased striatal DA release. Knock-out (KO) mice deficient in Pnkd exhibit lower glutathione levels in frontal cortex and impaired motor coordination. Mouse models of PNKD (Tg and KO) are valuable tools for elucidating the function of PNKD and understanding the pathophysiology of paroxysmal dyskinesias.
Movement Disorders: Genetics and Models: Second Edition
Kuruvilla, K., & LeDoux, M. (2015). Mouse Models of PNKD. Movement Disorders: Genetics and Models: Second Edition, 779-783. https://doi.org/10.1016/B978-0-12-405195-9.00049-4