Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
Identifieur interne : 001A69 ( Istex/Corpus ); précédent : 001A68; suivant : 001A70Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
Auteurs : Ronald B. Postuma ; Yoshiaki Furukawa ; Ekaterina Rogaeva ; Peter H. St. George-Hyslop ; Matt J. Farrer ; Anthony E. LangSource :
- Movement Disorders [ 0885-3185 ] ; 2003-09.
English descriptors
Abstract
We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society
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DOI: 10.1002/mds.10478
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Postuma</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Furukawa, Yoshiaki" sort="Furukawa, Yoshiaki" uniqKey="Furukawa Y" first="Yoshiaki" last="Furukawa">Yoshiaki Furukawa</name><affiliation><mods:affiliation>Movement Disorders Research Laboratory, Centre for Addiction and Mental Health‐Clarke Division, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><mods:affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="St George Yslop, Peter H" sort="St George Yslop, Peter H" uniqKey="St George Yslop P" first="Peter H." last="St. George-Hyslop">Peter H. 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Postuma</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Furukawa, Yoshiaki" sort="Furukawa, Yoshiaki" uniqKey="Furukawa Y" first="Yoshiaki" last="Furukawa">Yoshiaki Furukawa</name><affiliation><mods:affiliation>Movement Disorders Research Laboratory, Centre for Addiction and Mental Health‐Clarke Division, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><mods:affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="St George Yslop, Peter H" sort="St George Yslop, Peter H" uniqKey="St George Yslop P" first="Peter H." last="St. George-Hyslop">Peter H. St. George-Hyslop</name><affiliation><mods:affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matt J" sort="Farrer, Matt J" uniqKey="Farrer M" first="Matt J." last="Farrer">Matt J. Farrer</name><affiliation><mods:affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-09">2003-09</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1070">1070</biblScope><biblScope unit="page" to="1072">1072</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DF90C100AC951C0054105B5235E7F6E7F2E14804</idno><idno type="DOI">10.1002/mds.10478</idno><idno type="ArticleID">MDS10478</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>GTP cyclohydrolase 1</term><term>dopa‐responsive dystonia</term><term>parkin</term><term>parkinsonism</term><term>resting leg tremor</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Ronald B. Postuma MD</name><affiliations><json:string>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</json:string><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Yoshiaki Furukawa MD</name><affiliations><json:string>Movement Disorders Research Laboratory, Centre for Addiction and Mental Health‐Clarke Division, Toronto, Ontario, Canada</json:string><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Ekaterina Rogaeva PhD</name><affiliations><json:string>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</json:string><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Peter H. St. George‐Hyslop MD</name><affiliations><json:string>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</json:string><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Matt J. Farrer PhD</name><affiliations><json:string>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</json:string><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Anthony E. Lang MD</name><affiliations><json:string>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</json:string><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dopa‐responsive dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>resting leg tremor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GTP cyclohydrolase 1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkin</value></json:item></subject><language><json:string>eng</json:string></language><abstract>We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. 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tremor</keyword><keyword xml:id="kwd4">GTP cyclohydrolase 1</keyword><keyword xml:id="kwd5"><i>parkin</i></keyword></keywordGroup><fundingInfo><fundingAgency>Parkinson Society of Canada</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the <i>parkin</i> gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>A videotape accompanies this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Clinical/Scientific Note</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of</title></titleInfo><name type="personal"><namePart type="given">Ronald B.</namePart><namePart type="family">Postuma</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</affiliation><affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yoshiaki</namePart><namePart type="family">Furukawa</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Movement Disorders Research Laboratory, Centre for Addiction and Mental Health‐Clarke Division, Toronto, Ontario, Canada</affiliation><affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ekaterina</namePart><namePart type="family">Rogaeva</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter H.</namePart><namePart type="family">St. George‐Hyslop</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matt J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony E.</namePart><namePart type="family">Lang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</affiliation><affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation><description>Correspondence: Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, 399 Bathurst Street, MP11, Toronto, Ontario Canada M5T 2S8,</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2003-09</dateIssued><dateCaptured encoding="w3cdtf">2002-10-28</dateCaptured><dateValid encoding="w3cdtf">2003-02-17</dateValid><copyrightDate encoding="w3cdtf">2003</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="references">18</extent><extent unit="words">3081</extent></physicalDescription><abstract lang="en">We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society</abstract><note type="content">*A videotape accompanies this article.</note><note type="funding">Parkinson Society of Canada</note><subject lang="en"><genre>Keywords</genre><topic>dopa‐responsive dystonia</topic><topic>parkinsonism</topic><topic>resting leg tremor</topic><topic>GTP cyclohydrolase 1</topic><topic>parkin</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Clinical/Scientific Note with Video</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>2003</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1070</start><end>1072</end><total>5</total></extent></part></relatedItem><identifier type="istex">DF90C100AC951C0054105B5235E7F6E7F2E14804</identifier><identifier type="DOI">10.1002/mds.10478</identifier><identifier type="ArticleID">MDS10478</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 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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