Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13 | Zendy

Zaremba Jacek | Zendy; Mierzewska Hanna | Zendy; Lysiak Zofia | Zendy; Kramer Patricia | Zendy; Ozelius Laurie J. | Zendy; Brashear Allison | Zendy

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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

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