Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
Identifieur interne : 002E89 ( Istex/Corpus ); précédent : 002E88; suivant : 002E90Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
Auteurs : Jacek Zaremba ; Hanna Mierzewska ; Zofia Lysiak ; Patricia Kramer ; Laurie J. Ozelius ; Allison BrashearSource :
- Movement Disorders [ 0885-3185 ] ; 2004-12.
English descriptors
- KwdEn :
- DYT12, RDP, dystonia, parkinsonism.
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. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20258
Links to Exploration step
ISTEX:59C78FE9C95E5509098252021484BB8480A7CED2Le document en format XML
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By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Rapid‐Onset Dystonia–Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13</title></titleInfo><name type="personal"><namePart type="given">Jacek</namePart><namePart type="family">Zaremba</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland</affiliation><description>Correspondence: Department of Genetics, Institute of Psychiatry and Neurology, 9 Sobieskiego street, 02‐957 Warsaw, Poland</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hanna</namePart><namePart type="family">Mierzewska</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zofia</namePart><namePart type="family">Lysiak</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Patricia</namePart><namePart type="family">Kramer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, Oregon Health Sciences University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie J.</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Allison</namePart><namePart type="family">Brashear</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-12</dateIssued><dateCaptured encoding="w3cdtf">2003-01-28</dateCaptured><dateValid encoding="w3cdtf">2004-05-19</dateValid><copyrightDate encoding="w3cdtf">2004</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">8</extent><extent unit="words">3365</extent></physicalDescription><abstract lang="en">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</abstract><note type="funding">Dystonia Medical Research Foundation</note><note type="funding">National Institutes of Health - No. AG‐10133; </note><subject lang="en"><genre>Keywords</genre><topic>dystonia</topic><topic>parkinsonism</topic><topic>RDP</topic><topic>DYT12</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>1506</start><end>1510</end><total>5</total></extent></part></relatedItem><identifier type="istex">59C78FE9C95E5509098252021484BB8480A7CED2</identifier><identifier type="DOI">10.1002/mds.20258</identifier><identifier type="ArticleID">MDS20258</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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