Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13

Movement Disorders : Official Journal of the Movement Disorder Society
Jacek ZarembaA Brashear

Abstract

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.

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Citations

Feb 7, 2007·Brain : a Journal of Neurology·Allison BrashearLaurie J Ozelius
Apr 18, 2014·Lancet Neurology·Erin L HeinzenUNKNOWN ATP1A3 Working Group
Apr 27, 2012·Parkinsonism & Related Disorders·Richard L BarbanoAllison Brashear
Sep 8, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Christine KleinAnthony E Lang
Jun 28, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Jee-Young LeeBeom S Jeon
Sep 15, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Daan J KamphuisMarina A J Tijssen
Jun 1, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Laurie J OzeliusSusan B Bressman
Jul 31, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Janneth OleasYuqing Li
May 23, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Andrew McKeonSean J Pittock
Oct 12, 2016·Neurogenetics·Marie HullyNadia Bahi-Buisson
Feb 22, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Elizabeth J Slow, Anthony E Lang

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