Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia
Identifieur interne : 000C13 ( Istex/Corpus ); précédent : 000C12; suivant : 000C14Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia
Auteurs : Szu-Chia Lai ; Shih-Ming Jung ; Padraic Grattan-Smith ; Ella Sugo ; Yen-Wen Lin ; Rou-Shayn Chen ; Chiung-Chu Chen ; Yah-Huei Wu-Chou ; Anthony E. Lang ; Chin-Song LuSource :
- Movement Disorders [ 0885-3185 ] ; 2010-07-15.
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Abstract
There are very few conditions that present with dopa‐responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.22876
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Lang</name><affiliation><mods:affiliation>Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada</mods:affiliation></affiliation></author><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>Neuroscience Research Center</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Movement Disorders Section</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Szu‐Chia Lai MD</name><affiliations><json:string>Neuroscience Research Center</json:string><json:string>Department of Neurology, Movement Disorders Section</json:string></affiliations></json:item><json:item><name>Shih‐Ming Jung MD</name><affiliations><json:string>Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</json:string></affiliations></json:item><json:item><name>Padraic Grattan‐Smith MD</name><affiliations><json:string>Department of Neurology, Sydney Children's Hospital, Randwick NSW, Australia</json:string></affiliations></json:item><json:item><name>Ella Sugo MD</name><affiliations><json:string>Department of Anatomical Pathology, SEALS, Prince of Wales Hospital, Randwick NSW, Australia</json:string></affiliations></json:item><json:item><name>Yen‐Wen Lin MD</name><affiliations><json:string>Division of Clinical Science, Center for Drug Evaluation, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Rou‐Shayn Chen MD</name><affiliations><json:string>Neuroscience Research Center</json:string><json:string>Department of Neurology, Movement Disorders Section</json:string></affiliations></json:item><json:item><name>Chiung‐Chu Chen MD</name><affiliations><json:string>Neuroscience Research Center</json:string><json:string>Department of Neurology, Movement Disorders Section</json:string></affiliations></json:item><json:item><name>Yah‐Huei Wu‐Chou PhD</name><affiliations><json:string>Department of Medical Research, Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</json:string></affiliations></json:item><json:item><name>Anthony E. Lang MD</name><affiliations><json:string>Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada</json:string></affiliations></json:item><json:item><name>Chin‐Song Lu MD</name><affiliations><json:string>Neuroscience Research Center</json:string><json:string>Department of Neurology, Movement Disorders Section</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>juvenile parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neuronal intranuclear inclusion disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dopa‐induced dyskinesia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>oculogyric crisis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>rectal biopsy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>deep brain stimulation</value></json:item></subject><language><json:string>eng</json:string></language><abstract>There are very few conditions that present with dopa‐responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>6.884</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1107</abstractCharCount><pdfWordCount>14394</pdfWordCount><pdfCharCount>96404</pdfCharCount><pdfPageCount>23</pdfPageCount><abstractWordCount>157</abstractWordCount></qualityIndicators><title>Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia</title><genre><json:string>Serial article</json:string></genre><host><volume>25</volume><pages><total>6</total><last>1279</last><first>1274</first></pages><issn><json:string>0885-3185</json:string></issn><issue>9</issue><subject><json:item><value>Brief Report</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>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/mds.22876</json:string></doi><id>70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia</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>2010</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: all authors report no conflict of interest.</note><note>National Science Council, Taiwan - No. NSC 96‐2628‐B‐182A‐097‐MY3;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia</title><author><persName><forename type="first">Szu‐Chia</forename><surname>Lai</surname><roleName type="degree">MD</roleName></persName><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation></author><author><persName><forename type="first">Shih‐Ming</forename><surname>Jung</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</affiliation></author><author><persName><forename type="first">Padraic</forename><surname>Grattan‐Smith</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Sydney Children's Hospital, Randwick NSW, Australia</affiliation></author><author><persName><forename type="first">Ella</forename><surname>Sugo</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Anatomical Pathology, SEALS, Prince of Wales Hospital, Randwick NSW, Australia</affiliation></author><author><persName><forename type="first">Yen‐Wen</forename><surname>Lin</surname><roleName type="degree">MD</roleName></persName><affiliation>Division of Clinical Science, Center for Drug Evaluation, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Rou‐Shayn</forename><surname>Chen</surname><roleName type="degree">MD</roleName></persName><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation></author><author><persName><forename type="first">Chiung‐Chu</forename><surname>Chen</surname><roleName type="degree">MD</roleName></persName><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation></author><author><persName><forename type="first">Yah‐Huei</forename><surname>Wu‐Chou</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Medical Research, Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</affiliation></author><author><persName><forename type="first">Anthony E.</forename><surname>Lang</surname><roleName type="degree">MD</roleName></persName><affiliation>Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada</affiliation></author><author><persName><forename type="first">Chin‐Song</forename><surname>Lu</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Chang Gung Memorial Hospital, Neurology, No. 5, Fu‐Shin Street, Kweishan, Taoyuan, Taiwan 33305, Republic of China</p></note><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>juvenile parkinsonism</term></item><item><term>neuronal intranuclear inclusion disease</term></item><item><term>dopa‐induced dyskinesia</term></item><item><term>oculogyric crisis</term></item><item><term>rectal biopsy</term></item><item><term>deep brain stimulation</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-06-09">Received</change><change when="2009-10-12">Registration</change><change when="2010-07-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E/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="short">Mov. 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date="2009-10-12"></event><event type="firstOnline" date="2010-04-13"></event><event type="publishedOnlineFinalForm" date="2010-07-19"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-04-13"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.8 mode:FullText" date="2011-05-03"></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">1274</numbering><numbering type="pageLast">1279</numbering></numberingGroup><correspondenceTo>Chang Gung Memorial Hospital, Neurology, No. 5, Fu‐Shin Street, Kweishan, Taoyuan, Taiwan 33305, Republic of China</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22876.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="34"></count><count type="wordTotal" number="3875"></count></countGroup><titleGroup><title type="main" xml:lang="en">Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia<link href="#fn2"></link></title><title type="short" xml:lang="en">Neuronal Intranuclear Inclusion Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Szu‐Chia</givenNames><familyName>Lai</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Shih‐Ming</givenNames><familyName>Jung</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Padraic</givenNames><familyName>Grattan‐Smith</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Ella</givenNames><familyName>Sugo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Yen‐Wen</givenNames><familyName>Lin</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Rou‐Shayn</givenNames><familyName>Chen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Chiung‐Chu</givenNames><familyName>Chen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Yah‐Huei</givenNames><familyName>Wu‐Chou</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Anthony E.</givenNames><familyName>Lang</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Chin‐Song</givenNames><familyName>Lu</familyName><degrees>MD</degrees></personName><contactDetails><email>bob.cslu@gmail.com</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Neuroscience Research Center</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Movement Disorders Section</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="TW" type="organization"><unparsedAffiliation>Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="AU" type="organization"><unparsedAffiliation>Department of Neurology, Sydney Children's Hospital, Randwick NSW, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="AU" type="organization"><unparsedAffiliation>Department of Anatomical Pathology, SEALS, Prince of Wales Hospital, Randwick NSW, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="TW" type="organization"><unparsedAffiliation>Division of Clinical Science, Center for Drug Evaluation, Taipei, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="TW" type="organization"><unparsedAffiliation>Department of Medical Research, Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="CA" type="organization"><unparsedAffiliation>Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">juvenile parkinsonism</keyword><keyword xml:id="kwd2">neuronal intranuclear inclusion disease</keyword><keyword xml:id="kwd3">dopa‐induced dyskinesia</keyword><keyword xml:id="kwd4">oculogyric crisis</keyword><keyword xml:id="kwd5">rectal biopsy</keyword><keyword xml:id="kwd6">deep brain stimulation</keyword></keywordGroup><fundingInfo><fundingAgency>National Science Council, Taiwan</fundingAgency><fundingNumber>NSC 96‐2628‐B‐182A‐097‐MY3</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>There are very few conditions that present with dopa‐responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: all authors report no conflict of interest.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Neuronal Intranuclear Inclusion Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia</title></titleInfo><name type="personal"><namePart type="given">Szu‐Chia</namePart><namePart type="family">Lai</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shih‐Ming</namePart><namePart type="family">Jung</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Padraic</namePart><namePart type="family">Grattan‐Smith</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Sydney Children's Hospital, Randwick NSW, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ella</namePart><namePart type="family">Sugo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Anatomical Pathology, SEALS, Prince of Wales Hospital, Randwick NSW, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yen‐Wen</namePart><namePart type="family">Lin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Clinical Science, Center for Drug Evaluation, Taipei, 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>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chiung‐Chu</namePart><namePart type="family">Chen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation><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>Department of Medical Research, Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan</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>Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chin‐Song</namePart><namePart type="family">Lu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neuroscience Research Center</affiliation><affiliation>Department of Neurology, Movement Disorders Section</affiliation><description>Correspondence: Chang Gung Memorial Hospital, Neurology, No. 5, Fu‐Shin Street, Kweishan, Taoyuan, Taiwan 33305, 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">2010-07-15</dateIssued><dateCaptured encoding="w3cdtf">2009-06-09</dateCaptured><dateValid encoding="w3cdtf">2009-10-12</dateValid><copyrightDate encoding="w3cdtf">2010</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">1</extent><extent unit="references">34</extent><extent unit="words">3875</extent></physicalDescription><abstract lang="en">There are very few conditions that present with dopa‐responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: all authors report no conflict of interest.</note><note type="funding">National Science Council, Taiwan - No. NSC 96‐2628‐B‐182A‐097‐MY3; </note><subject lang="en"><genre>Keywords</genre><topic>juvenile parkinsonism</topic><topic>neuronal intranuclear inclusion disease</topic><topic>dopa‐induced dyskinesia</topic><topic>oculogyric crisis</topic><topic>rectal biopsy</topic><topic>deep brain stimulation</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1274</start><end>1279</end><total>6</total></extent></part></relatedItem><identifier type="istex">70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E</identifier><identifier type="DOI">10.1002/mds.22876</identifier><identifier type="ArticleID">MDS22876</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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