Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.
Zaremba
Jacek
J
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. zaremba@ipin.edu.pl
Mierzewska
Hanna
H
Lysiak
Zofia
Z
Kramer
Patricia
P
Ozelius
Laurie J
LJ
Brashear
Allison
A
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers