Neuronal intranuclear inclusion disease and juvenile Parkinsonism
Identifieur interne : 001783 ( Istex/Corpus ); précédent : 001782; suivant : 001784Neuronal intranuclear inclusion disease and juvenile Parkinsonism
Auteurs : John D. O'Sullivan ; Hasmet A. Hanagasi ; Susan E. Daniel ; Phillip Tidswell ; Stephen W. Davies ; Andrew J. LeesSource :
- Movement Disorders [ 0885-3185 ] ; 2000-09.
English descriptors
- KwdEn :
Abstract
Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17‐year‐old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was widespread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.
Url:
DOI: 10.1002/1531-8257(200009)15:5<990::AID-MDS1035>3.0.CO;2-I
Links to Exploration step
ISTEX:239F07DB970EFCD62598483367C8504BBA164306Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title><author><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D." last="O'Sullivan">John D. O'Sullivan</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Hanagasi, Hasmet A" sort="Hanagasi, Hasmet A" uniqKey="Hanagasi H" first="Hasmet A." last="Hanagasi">Hasmet A. Hanagasi</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Daniel, Susan E" sort="Daniel, Susan E" uniqKey="Daniel S" first="Susan E." last="Daniel">Susan E. Daniel</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Tidswell, Phillip" sort="Tidswell, Phillip" uniqKey="Tidswell P" first="Phillip" last="Tidswell">Phillip Tidswell</name><affiliation><mods:affiliation>Department of Neurology, Royal Preston Hospital, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Davies, Stephen W" sort="Davies, Stephen W" uniqKey="Davies S" first="Stephen W." last="Davies">Stephen W. Davies</name><affiliation><mods:affiliation>Department of Anatomy and Developmental Biology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:239F07DB970EFCD62598483367C8504BBA164306</idno><date when="2000" year="2000">2000</date><idno type="doi">10.1002/1531-8257(200009)15:5<990::AID-MDS1035>3.0.CO;2-I</idno><idno type="url">https://api.istex.fr/document/239F07DB970EFCD62598483367C8504BBA164306/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001783</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title><author><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D." last="O'Sullivan">John D. O'Sullivan</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Hanagasi, Hasmet A" sort="Hanagasi, Hasmet A" uniqKey="Hanagasi H" first="Hasmet A." last="Hanagasi">Hasmet A. Hanagasi</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Daniel, Susan E" sort="Daniel, Susan E" uniqKey="Daniel S" first="Susan E." last="Daniel">Susan E. Daniel</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Tidswell, Phillip" sort="Tidswell, Phillip" uniqKey="Tidswell P" first="Phillip" last="Tidswell">Phillip Tidswell</name><affiliation><mods:affiliation>Department of Neurology, Royal Preston Hospital, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Davies, Stephen W" sort="Davies, Stephen W" uniqKey="Davies S" first="Stephen W." last="Davies">Stephen W. Davies</name><affiliation><mods:affiliation>Department of Anatomy and Developmental Biology, University College, London, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2000-09">2000-09</date><biblScope unit="vol">15</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="990">990</biblScope><biblScope unit="page" to="995">995</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">239F07DB970EFCD62598483367C8504BBA164306</idno><idno type="DOI">10.1002/1531-8257(200009)15:5<990::AID-MDS1035>3.0.CO;2-I</idno><idno type="ArticleID">MDS1035</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Intranuclear inclusion</term><term>Juvenile</term><term>Levodopa</term><term>Parkinsonism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17‐year‐old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was widespread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>John D. O'Sullivan</name><affiliations><json:string>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</json:string></affiliations></json:item><json:item><name>Hasmet A. Hanagasi</name><affiliations><json:string>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</json:string></affiliations></json:item><json:item><name>Susan E. Daniel</name><affiliations><json:string>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</json:string></affiliations></json:item><json:item><name>Phillip Tidswell</name><affiliations><json:string>Department of Neurology, Royal Preston Hospital, U.K.</json:string></affiliations></json:item><json:item><name>Stephen W. Davies</name><affiliations><json:string>Department of Anatomy and Developmental Biology, University College, London, U.K.</json:string></affiliations></json:item><json:item><name>Andrew J. Lees</name><affiliations><json:string>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Juvenile</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Intranuclear inclusion</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Levodopa</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Juvenile parkinsonism (onset age >20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17‐year‐old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was widespread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.</abstract><qualityIndicators><score>6.014</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1486</abstractCharCount><pdfWordCount>3482</pdfWordCount><pdfCharCount>23929</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>211</abstractWordCount></qualityIndicators><title>Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title><genre><json:string>Serial article</json:string></genre><host><volume>15</volume><pages><total>6</total><last>995</last><first>990</first></pages><issn><json:string>0885-3185</json:string></issn><issue>5</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>2000</publicationDate><copyrightDate>2000</copyrightDate><doi><json:string>10.1002/1531-8257(200009)15:5>990::AID-MDS1035>3.0.CO;2-I</json:string></doi><id>239F07DB970EFCD62598483367C8504BBA164306</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/239F07DB970EFCD62598483367C8504BBA164306/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/239F07DB970EFCD62598483367C8504BBA164306/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/239F07DB970EFCD62598483367C8504BBA164306/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><availability><p>John Wiley & Sons, Inc.</p></availability><date>2000</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title><author><persName><forename type="first">John D.</forename><surname>O'Sullivan</surname></persName><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation></author><author><persName><forename type="first">Hasmet A.</forename><surname>Hanagasi</surname></persName><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation></author><author><persName><forename type="first">Susan E.</forename><surname>Daniel</surname></persName><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation></author><author><persName><forename type="first">Phillip</forename><surname>Tidswell</surname></persName><affiliation>Department of Neurology, Royal Preston Hospital, U.K.</affiliation></author><author><persName><forename type="first">Stephen W.</forename><surname>Davies</surname></persName><affiliation>Department of Anatomy and Developmental Biology, University College, London, U.K.</affiliation></author><author><persName><forename type="first">Andrew J.</forename><surname>Lees</surname></persName><note type="correspondence"><p>Correspondence: Parkinson's Disease Society Brain Research Centre, Institute of Neurology, 1 Wakefield Street, University College, London, WC1N 3PJ, U.K.</p></note><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation></author></analytic><monogr><title level="j">Movement Disorders</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>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2000-09"></date><biblScope unit="vol">15</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="990">990</biblScope><biblScope unit="page" to="995">995</biblScope></imprint></monogr><idno type="istex">239F07DB970EFCD62598483367C8504BBA164306</idno><idno type="DOI">10.1002/1531-8257(200009)15:5<990::AID-MDS1035>3.0.CO;2-I</idno><idno type="ArticleID">MDS1035</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2000</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17‐year‐old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was widespread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinsonism</term></item><item><term>Juvenile</term></item><item><term>Intranuclear inclusion</term></item><item><term>Levodopa</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="2000-01-27">Received</change><change when="2000-04-26">Registration</change><change when="2000-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/239F07DB970EFCD62598483367C8504BBA164306/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>John Wiley & Sons, Inc.</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="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="50"><doi origin="wiley" registered="yes">10.1002/1531-8257(200009)15:5<>1.0.CO;2-S</doi><numberingGroup><numbering type="journalVolume" number="15">15</numbering><numbering type="journalIssue">5</numbering></numberingGroup><coverDate startDate="2000-09">September 2000</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="35" status="forIssue"><doi origin="wiley" registered="yes">10.1002/1531-8257(200009)15:5<990::AID-MDS1035>3.0.CO;2-I</doi><idGroup><id type="unit" value="MDS1035"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2000 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2000-01-27"></event><event type="manuscriptRevised" date="2000-04-26"></event><event type="manuscriptAccepted" date="2000-04-26"></event><event type="firstOnline" date="2001-01-23"></event><event type="publishedOnlineFinalForm" date="2001-01-23"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.18.1 mode:FullText source:HeaderRef result:HeaderRef" date="2010-09-09"></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">990</numbering><numbering type="pageLast">995</numbering></numberingGroup><correspondenceTo>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, 1 Wakefield Street, University College, London, WC1N 3PJ, U.K.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS1035.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="39"></count><count type="wordTotal" number="3407"></count></countGroup><titleGroup><title type="main" xml:lang="en">Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title><title type="short" xml:lang="en">Intranuclear Inclusions and Parkinsonism</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>John D.</givenNames><familyName>O'Sullivan</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Hasmet A.</givenNames><familyName>Hanagasi</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Susan E.</givenNames><familyName>Daniel</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Phillip</givenNames><familyName>Tidswell</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Stephen W.</givenNames><familyName>Davies</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Andrew J.</givenNames><familyName>Lees</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Department of Neurology, Royal Preston Hospital, U.K.</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Department of Anatomy and Developmental Biology, University College, London, U.K.</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinsonism</keyword><keyword xml:id="kwd2">Juvenile</keyword><keyword xml:id="kwd3">Intranuclear inclusion</keyword><keyword xml:id="kwd4">Levodopa</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17‐year‐old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was widespread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.</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>Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Intranuclear Inclusions and Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Neuronal intranuclear inclusion disease and juvenile Parkinsonism</title></titleInfo><name type="personal"><namePart type="given">John D.</namePart><namePart type="family">O'Sullivan</namePart><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hasmet A.</namePart><namePart type="family">Hanagasi</namePart><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susan E.</namePart><namePart type="family">Daniel</namePart><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Phillip</namePart><namePart type="family">Tidswell</namePart><affiliation>Department of Neurology, Royal Preston Hospital, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stephen W.</namePart><namePart type="family">Davies</namePart><affiliation>Department of Anatomy and Developmental Biology, University College, London, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew J.</namePart><namePart type="family">Lees</namePart><affiliation>Parkinson's Disease Society Brain Research Centre, Institute of Neurology, University College, London, U.K.</affiliation><description>Correspondence: Parkinson's Disease Society Brain Research Centre, Institute of Neurology, 1 Wakefield Street, University College, London, WC1N 3PJ, U.K.</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2000-09</dateIssued><dateCaptured encoding="w3cdtf">2000-01-27</dateCaptured><dateValid encoding="w3cdtf">2000-04-26</dateValid><copyrightDate encoding="w3cdtf">2000</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">3</extent><extent unit="references">39</extent><extent unit="words">3407</extent></physicalDescription><abstract lang="en">Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17‐year‐old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was widespread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.</abstract><subject lang="en"><genre>Keywords</genre><topic>Parkinsonism</topic><topic>Juvenile</topic><topic>Intranuclear inclusion</topic><topic>Levodopa</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>2000</date><detail type="volume"><caption>vol.</caption><number>15</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>990</start><end>995</end><total>6</total></extent></part></relatedItem><identifier type="istex">239F07DB970EFCD62598483367C8504BBA164306</identifier><identifier type="DOI">10.1002/1531-8257(200009)15:5<990::AID-MDS1035>3.0.CO;2-I</identifier><identifier type="ArticleID">MDS1035</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2000 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</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 001783 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001783 | 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:239F07DB970EFCD62598483367C8504BBA164306
|texte= Neuronal intranuclear inclusion disease and juvenile Parkinsonism
}}
| This area was generated with Dilib version V0.6.23. |  |