Premium
Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
Author(s) -
Zaremba Jacek,
Mierzewska Hanna,
Lysiak Zofia,
Kramer Patricia,
Ozelius Laurie J.,
Brashear Allison
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20258
Subject(s) - parkinsonism , dystonia , genetic linkage , haplotype , linkage (software) , movement disorders , genetics , neurological disorder , age of onset , chromosome , medicine , central nervous system disease , neuroscience , biology , pathology , disease , allele , gene
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. © 2004 Movement Disorder Society