Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Identifieur interne : 002E87 ( Istex/Corpus ); précédent : 002E86; suivant : 002E88Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Auteurs : Din-E Shan ; Ren-Shyan Liu ; Chen-Ming Sun ; Shwn-Jen Lee ; Kwong-Kum Liao ; Bing-Wen SoongSource :
- Movement Disorders [ 0885-3185 ] ; 2004-11.
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Abstract
Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20212
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ISTEX:B11898E0548595DD2AFDFC0CB340F96282A7589DLe document en format XML
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He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Din‐E Shan MD, PhD</name><affiliations><json:string>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</json:string><json:string>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan, Republic of China</json:string></affiliations></json:item><json:item><name>Ren‐Shyan Liu MD</name><affiliations><json:string>National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</json:string></affiliations></json:item><json:item><name>Chen‐Ming Sun MD</name><affiliations><json:string>National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</json:string></affiliations></json:item><json:item><name>Shwn‐Jen Lee PhD, PT</name><affiliations><json:string>Department of Physical Therapy, National Yang‐Ming University, Taipei, Taiwan, Republic of China</json:string></affiliations></json:item><json:item><name>Kwong‐Kum Liao MD</name><affiliations><json:string>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</json:string><json:string>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan, Republic of China</json:string></affiliations></json:item><json:item><name>Bing‐Wen Soong MD, PhD</name><affiliations><json:string>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</json:string><json:string>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan, Republic of China</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PET</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SCA2</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. 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Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</abstract><qualityIndicators><score>4.114</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>608</abstractCharCount><pdfWordCount>2986</pdfWordCount><pdfCharCount>19262</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>94</abstractWordCount></qualityIndicators><title>Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title><genre><json:string>Serial article</json:string></genre><host><volume>19</volume><pages><total>3</total><last>1360</last><first>1357</first></pages><issn><json:string>0885-3185</json:string></issn><issue>11</issue><subject><json:item><value>Brief Report with Video</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2004</publicationDate><copyrightDate>2004</copyrightDate><doi><json:string>10.1002/mds.20212</json:string></doi><id>B11898E0548595DD2AFDFC0CB340F96282A7589D</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2004</date></publicationStmt><notesStmt><note>National Science Council, ROC - No. NSC‐91‐2314‐B‐075‐045; 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Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>PET</term></item><item><term>SCA2</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report with Video</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2004-01-20">Received</change><change when="2004-03-27">Registration</change><change when="2004-11">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/B11898E0548595DD2AFDFC0CB340F96282A7589D/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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type="main">Abstract</title><p>Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the <i>SCA2</i> gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the <i>SCA2</i> gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 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>Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>SCA2 and Sporadic Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications</title></titleInfo><name type="personal"><namePart type="given">Din‐E</namePart><namePart type="family">Shan</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</affiliation><affiliation>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan, Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ren‐Shyan</namePart><namePart type="family">Liu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chen‐Ming</namePart><namePart type="family">Sun</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shwn‐Jen</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">PhD, PT</namePart><affiliation>Department of Physical Therapy, National Yang‐Ming University, Taipei, Taiwan, Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kwong‐Kum</namePart><namePart type="family">Liao</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</affiliation><affiliation>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan, Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bing‐Wen</namePart><namePart type="family">Soong</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China</affiliation><affiliation>Department of Neurology, National Yang‐Ming University, Taipei, Taiwan, Republic of China</affiliation><description>Correspondence: The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, 112, Republic of China</description><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">2004-11</dateIssued><dateCaptured encoding="w3cdtf">2004-01-20</dateCaptured><dateValid encoding="w3cdtf">2004-03-27</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="references">19</extent><extent unit="words">2072</extent></physicalDescription><abstract lang="en">Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</abstract><note type="funding">National Science Council, ROC - No. NSC‐91‐2314‐B‐075‐045; No. NSC 90‐2314‐B‐010‐028; </note><note type="funding">Taipei Veterans General Hospital - No. VGH‐90‐372; No. VGH‐92‐308; </note><note type="funding">VTY Joint Research Program, Tsou's Foundation - No. VTY92‐P5‐39; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>PET</topic><topic>SCA2</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><note type="content"> This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat.Supporting Info Item: Supporting Information file suppmat_shan.mpg - </note><subject><genre>article category</genre><topic>Brief Report 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>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>1357</start><end>1360</end><total>3</total></extent></part></relatedItem><identifier type="istex">B11898E0548595DD2AFDFC0CB340F96282A7589D</identifier><identifier type="DOI">10.1002/mds.20212</identifier><identifier type="ArticleID">MDS20212</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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