TITLE: Severe dermatitis with loss of epidermal Langerhans cells in human and mouse zinc deficiency
AUTHOR CONTACT:
Tatsuyoshi Kawamura
Departments of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, JPN
Phone: +81-55-273-6766; E-mail: tkawa@yamanashi.ac.jp
View this article at: http://www.jci.org/articles/view/58618?key=eee11997df6e91290768
NEUROLOGICAL DISEASE
New insight into genetic movement disorder
Paroxysmal non-kinesigenic dyskinesia (PNKD) is aa genetic movement disorder, with episodes precipitated by alcohol, coffee, and stress. It is caused by mutations in the PNKD gene, but the normal function of that gene had been a mystery. In new research, Louis J. Ptček and colleagues at the University of California, San Francisco, investigated the expression pattern and function of Pknd in mice. The group generated mice that expressed known human disease mutations in Pnkd, and found that mouse had a movement disorder similar to the human disease. In these mice, attacks of dyskinesia were characterized by activation of neurons in the basal ganglia and alteration of dopamine signaling in the striatum. This research helps uncover the function of PKND, and in part explains what goes wrong in PKND patients.
TITLE: Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia
AUTHOR CONTACT:
Louis J. Ptacek
University of California San Francisco, San Francisco, CA, USA
Phone: (415
'/>"/>
| Contact: Karen Honey press_releases@the-jci.org Journal of Clinical Investigation Source:Eurekalert |