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.
English descriptors
- KwdEn :
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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<fundingNumber>NSC‐91‐2314‐B‐075‐045</fundingNumber>
<fundingNumber>NSC 90‐2314‐B‐010‐028</fundingNumber>
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<fundingInfo><fundingAgency>Taipei Veterans General Hospital</fundingAgency>
<fundingNumber>VGH‐90‐372</fundingNumber>
<fundingNumber>VGH‐92‐308</fundingNumber>
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<fundingInfo><fundingAgency>VTY Joint Research Program, Tsou's Foundation</fundingAgency>
<fundingNumber>VTY92‐P5‐39</fundingNumber>
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<supportingInformation><p> This article includes supplementary video clips, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat. </url>
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<supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds20212:suppmat_shan"></mediaResource>
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<abstractGroup><abstract type="main" xml:lang="en"><title 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>
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<!--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>
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<titleInfo type="abbreviated" lang="en"><title>SCA2 and Sporadic Parkinson's Disease</title>
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<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>
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<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>
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</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>
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<dateIssued encoding="w3cdtf">2004-11</dateIssued>
<dateCaptured encoding="w3cdtf">2004-01-20</dateCaptured>
<dateValid encoding="w3cdtf">2004-03-27</dateValid>
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<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>
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<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>
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<extent unit="pages"><start>1357</start>
<end>1360</end>
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<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>
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