[Rapid-onset dystonia-parkinsonism].
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.
Zaremba
Jacek
J
Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa. zaremba@ipin.edu.pl
D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D020734:Parkinsonian Disorders / Q000150:complications* / Q000235:genetics*