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
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<!--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>
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<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>
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