Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2
Identifieur interne : 000D00 ( Istex/Corpus ); précédent : 000C99; suivant : 000D01Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2
Auteurs : Chin-Song Lu ; Yah-Huei Wu Chou ; Tzu-Chen Yen ; Chon-Haw Tsai ; Rou-Shayn Chen ; Hsiu-Chen ChangSource :
- Movement Disorders [ 0885-3185 ] ; 2002-09.
English descriptors
Abstract
We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10243
Links to Exploration step
ISTEX:241E73A3889B0ED6D2494961E2F6056797CF272FLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2</title><author><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Wu Chou, Yah Uei" sort="Wu Chou, Yah Uei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name><affiliation><mods:affiliation>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Yen, Tzu Hen" sort="Yen, Tzu Hen" uniqKey="Yen T" first="Tzu-Chen" last="Yen">Tzu-Chen Yen</name><affiliation><mods:affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Tsai, Chon Aw" sort="Tsai, Chon Aw" uniqKey="Tsai C" first="Chon-Haw" last="Tsai">Chon-Haw Tsai</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chen, Rou Hayn" sort="Chen, Rou Hayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chang, Hsiu Hen" sort="Chang, Hsiu Hen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:241E73A3889B0ED6D2494961E2F6056797CF272F</idno><date when="2002" year="2002">2002</date><idno type="doi">10.1002/mds.10243</idno><idno type="url">https://api.istex.fr/document/241E73A3889B0ED6D2494961E2F6056797CF272F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000D00</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2</title><author><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Wu Chou, Yah Uei" sort="Wu Chou, Yah Uei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu Chou">Yah-Huei Wu Chou</name><affiliation><mods:affiliation>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Yen, Tzu Hen" sort="Yen, Tzu Hen" uniqKey="Yen T" first="Tzu-Chen" last="Yen">Tzu-Chen Yen</name><affiliation><mods:affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Tsai, Chon Aw" sort="Tsai, Chon Aw" uniqKey="Tsai C" first="Chon-Haw" last="Tsai">Chon-Haw Tsai</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chen, Rou Hayn" sort="Chen, Rou Hayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chang, Hsiu Hen" sort="Chang, Hsiu Hen" uniqKey="Chang H" first="Hsiu-Chen" last="Chang">Hsiu-Chen Chang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</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>New York</pubPlace><date type="published" when="2002-09">2002-09</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="1046">1046</biblScope><biblScope unit="page" to="1051">1051</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">241E73A3889B0ED6D2494961E2F6056797CF272F</idno><idno type="DOI">10.1002/mds.10243</idno><idno type="ArticleID">MDS10243</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>[99mTc]TRODAT‐1 SPECT</term><term>ataxin‐2 gene</term><term>parkinsonism</term><term>spinocerebellar ataxia type 2</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Chin‐Song Lu MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</json:string></affiliations></json:item><json:item><name>Yah‐Huei Wu Chou PhD</name><affiliations><json:string>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</json:string></affiliations></json:item><json:item><name>Tzu‐Chen Yen MD, PhD</name><affiliations><json:string>Department of Nuclear Medicine, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</json:string></affiliations></json:item><json:item><name>Chon‐Haw Tsai MD, PhD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</json:string></affiliations></json:item><json:item><name>Rou‐Shayn Chen MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</json:string></affiliations></json:item><json:item><name>Hsiu‐Chen Chang BS</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>spinocerebellar ataxia type 2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ataxin‐2 gene</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>[99mTc]TRODAT‐1 SPECT</value></json:item></subject><language><json:string>eng</json:string></language><abstract>We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society</abstract><qualityIndicators><score>6.833</score><pdfVersion>1.4</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1488</abstractCharCount><pdfWordCount>3705</pdfWordCount><pdfCharCount>22941</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>219</abstractWordCount></qualityIndicators><title>Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2</title><genre><json:string>Serial article</json:string></genre><host><volume>17</volume><pages><total>6</total><last>1051</last><first>1046</first></pages><issn><json:string>0885-3185</json:string></issn><issue>5</issue><subject><json:item><value>Brief Reports</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>2002</publicationDate><copyrightDate>2002</copyrightDate><doi><json:string>10.1002/mds.10243</json:string></doi><id>241E73A3889B0ED6D2494961E2F6056797CF272F</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/241E73A3889B0ED6D2494961E2F6056797CF272F/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/241E73A3889B0ED6D2494961E2F6056797CF272F/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/241E73A3889B0ED6D2494961E2F6056797CF272F/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2002</date></publicationStmt><notesStmt><note type="content">*A videotape accompanies this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2</title><author><persName><forename type="first">Chin‐Song</forename><surname>Lu</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, 199 Tung Hwa North Road, Taipei, Taiwan</p></note><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation></author><author><persName><forename type="first">Yah‐Huei</forename><surname>Wu Chou</surname><roleName type="degree">PhD</roleName></persName><affiliation>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation></author><author><persName><forename type="first">Tzu‐Chen</forename><surname>Yen</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation></author><author><persName><forename type="first">Chon‐Haw</forename><surname>Tsai</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation></author><author><persName><forename type="first">Rou‐Shayn</forename><surname>Chen</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation></author><author><persName><forename type="first">Hsiu‐Chen</forename><surname>Chang</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation></author></analytic><monogr><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="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-09"></date><biblScope unit="vol">17</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="1046">1046</biblScope><biblScope unit="page" to="1051">1051</biblScope></imprint></monogr><idno type="istex">241E73A3889B0ED6D2494961E2F6056797CF272F</idno><idno type="DOI">10.1002/mds.10243</idno><idno type="ArticleID">MDS10243</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2002</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>spinocerebellar ataxia type 2</term></item><item><term>ataxin‐2 gene</term></item><item><term>parkinsonism</term></item><item><term>[99mTc]TRODAT‐1 SPECT</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Reports</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2001-05-10">Received</change><change when="2002-01-31">Registration</change><change when="2002-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/241E73A3889B0ED6D2494961E2F6056797CF272F/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>New York</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. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="50"><doi origin="wiley" registered="yes">10.1002/mds.v17:5</doi><numberingGroup><numbering type="journalVolume" number="17">17</numbering><numbering type="journalIssue">5</numbering></numberingGroup><coverDate startDate="2002-09">September/October 2002</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="240" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.10243</doi><idGroup><id type="unit" value="MDS10243"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Brief Reports</title><title type="tocHeading1">Brief Report</title></titleGroup><copyright ownership="thirdParty">Copyright © 2002 Movement Disorders Society</copyright><eventGroup><event type="manuscriptReceived" date="2001-05-10"></event><event type="manuscriptRevised" date="2002-01-21"></event><event type="manuscriptAccepted" date="2002-01-31"></event><event type="publishedOnlineEarlyUnpaginated" date="2002-05-07"></event><event type="firstOnline" date="2002-05-07"></event><event type="publishedOnlineFinalForm" date="2002-09-26"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-09"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">1046</numbering><numbering type="pageLast">1051</numbering></numberingGroup><correspondenceTo>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, 199 Tung Hwa North Road, Taipei, Taiwan</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS10243.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="4"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="29"></count><count type="wordTotal" number="3620"></count></countGroup><titleGroup><title type="main" xml:lang="en">Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2<link href="#fn1"></link></title><title type="short" xml:lang="en">Parkinsonism Phenotype of SCA2</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Chin‐Song</givenNames><familyName>Lu</familyName><degrees>MD</degrees></personName><contactDetails><email>c81214@adm.cgmh.org.tw</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Yah‐Huei</givenNames><familyName>Wu Chou</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Tzu‐Chen</givenNames><familyName>Yen</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Chon‐Haw</givenNames><familyName>Tsai</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Rou‐Shayn</givenNames><familyName>Chen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Hsiu‐Chen</givenNames><familyName>Chang</familyName><degrees>BS</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="TW" type="organization"><unparsedAffiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="TW" type="organization"><unparsedAffiliation>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="TW" type="organization"><unparsedAffiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">spinocerebellar ataxia type 2</keyword><keyword xml:id="kwd2">ataxin‐2 gene</keyword><keyword xml:id="kwd3">parkinsonism</keyword><keyword xml:id="kwd4">[<sup>99m</sup>Tc]TRODAT‐1 SPECT</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [<sup>99m</sup>Tc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 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 parkinsonism phenotype of spinocerebellar ataxia type 2</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Parkinsonism Phenotype of SCA2</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2</title></titleInfo><name type="personal"><namePart type="given">Chin‐Song</namePart><namePart type="family">Lu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation><description>Correspondence: Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, 199 Tung Hwa North Road, Taipei, Taiwan</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yah‐Huei</namePart><namePart type="family">Wu Chou</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tzu‐Chen</namePart><namePart type="family">Yen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chon‐Haw</namePart><namePart type="family">Tsai</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rou‐Shayn</namePart><namePart type="family">Chen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hsiu‐Chen</namePart><namePart type="family">Chang</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Taiwan</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">New York</placeTerm></place><dateIssued encoding="w3cdtf">2002-09</dateIssued><dateCaptured encoding="w3cdtf">2001-05-10</dateCaptured><dateValid encoding="w3cdtf">2002-01-31</dateValid><copyrightDate encoding="w3cdtf">2002</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">4</extent><extent unit="references">29</extent><extent unit="words">3620</extent></physicalDescription><abstract lang="en">We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. Magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin‐2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [99mTc]TRODAT‐1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness. © 2002 Movement Disorder Society</abstract><note type="content">*A videotape accompanies this article.</note><subject lang="en"><genre>Keywords</genre><topic>spinocerebellar ataxia type 2</topic><topic>ataxin‐2 gene</topic><topic>parkinsonism</topic><topic>[99mTc]TRODAT‐1 SPECT</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>Brief Reports</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>2002</date><detail type="volume"><caption>vol.</caption><number>17</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>1046</start><end>1051</end><total>6</total></extent></part></relatedItem><identifier type="istex">241E73A3889B0ED6D2494961E2F6056797CF272F</identifier><identifier type="DOI">10.1002/mds.10243</identifier><identifier type="ArticleID">MDS10243</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2002 Movement Disorders 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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D00 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 000D00 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:241E73A3889B0ED6D2494961E2F6056797CF272F
|texte= Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2
}}
| This area was generated with Dilib version V0.6.23. |  |