[Rapid-onset dystonia-parkinsonism]
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Updated: Aug 11, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
1Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa. zaremba@ipin.edu.pl
Abstract:
Rapid-onset dystonia-parkinsonism (RDP, DYT12) is one of the fifteen genetic types of dystonia. Its' transmission is autosomal dominant with reduced penetrance. Onset of RDP is abrupt and occurring usually in the second decade of life, sometimes with preceding transient episods of dystonia. Clinical course of the disease is stationary, but the disease in most of the cases leads to seroius neurololgic disability. Previous haplotypic analyses have shown that RDP is linked to markers on chromosome 19q13. The last year it was found that the mutated gene is the one for the NA+/K(+)-ATPase alpha3 subunit (ATP1A3), (one of the sodium pumps). One of the six families described so far was identified in Poland.
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