Mouse Models of PNKD

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.

Original languageEnglish (US)
Title of host publicationMovement Disorders
Subtitle of host publicationGenetics and Models: Second Edition
PublisherElsevier Inc.
Pages779-783
Number of pages5
ISBN (Print)9780124051959
DOIs
StatePublished - Jan 1 2015

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Dyskinesias
Transgenes
Dopamine
Hyperkinesis
Corpus Striatum
Chorea
Coffee
Movement Disorders
Frontal Lobe
Caffeine
Point Mutation
Knockout Mice
Synaptic Transmission
Fatigue
Glutathione
Ethanol
Alcohols

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Pushpamangalam Kuruvilla, K., & Ledoux, M. (2015). Mouse Models of PNKD. In Movement Disorders: Genetics and Models: Second Edition (pp. 779-783). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-405195-9.00049-4

Mouse Models of PNKD. / Pushpamangalam Kuruvilla, Korah; Ledoux, Mark.

Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., 2015. p. 779-783.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pushpamangalam Kuruvilla, K & Ledoux, M 2015, Mouse Models of PNKD. in Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., pp. 779-783. https://doi.org/10.1016/B978-0-12-405195-9.00049-4
Pushpamangalam Kuruvilla K, Ledoux M. Mouse Models of PNKD. In Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc. 2015. p. 779-783 https://doi.org/10.1016/B978-0-12-405195-9.00049-4
Pushpamangalam Kuruvilla, Korah ; Ledoux, Mark. / Mouse Models of PNKD. Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., 2015. pp. 779-783
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