Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
Identifieur interne : 001E86 ( Istex/Corpus ); précédent : 001E85; suivant : 001E87Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
Auteurs : Peter C. G. Nijssen ; Esther Brusse ; Antonius C. M. Leyten ; J. J. Martin ; Johannes L. J. M. Teepen ; Raymund A. C. RoosSource :
- Movement Disorders [ 0885-3185 ] ; 2002-05.
English descriptors
- KwdEn :
Abstract
We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. 123I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10104
Links to Exploration step
ISTEX:211D1509CA5B62371B1C991B180C5D74C9552BEALe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title><author><name sortKey="Nijssen, Peter C G" sort="Nijssen, Peter C G" uniqKey="Nijssen P" first="Peter C. G." last="Nijssen">Peter C. G. Nijssen</name><affiliation><mods:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name><affiliation><mods:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Leyten, Antonius C M" sort="Leyten, Antonius C M" uniqKey="Leyten A" first="Antonius C. M." last="Leyten">Antonius C. M. Leyten</name><affiliation><mods:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name><affiliation><mods:affiliation>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Teepen, Johannes L J M" sort="Teepen, Johannes L J M" uniqKey="Teepen J" first="Johannes L. J. M." last="Teepen">Johannes L. J. M. Teepen</name><affiliation><mods:affiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Roos, Raymund A C" sort="Roos, Raymund A C" uniqKey="Roos R" first="Raymund A. C." last="Roos">Raymund A. C. Roos</name><affiliation><mods:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:211D1509CA5B62371B1C991B180C5D74C9552BEA</idno><date when="2002" year="2002">2002</date><idno type="doi">10.1002/mds.10104</idno><idno type="url">https://api.istex.fr/document/211D1509CA5B62371B1C991B180C5D74C9552BEA/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001E86</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title><author><name sortKey="Nijssen, Peter C G" sort="Nijssen, Peter C G" uniqKey="Nijssen P" first="Peter C. G." last="Nijssen">Peter C. G. Nijssen</name><affiliation><mods:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name><affiliation><mods:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Leyten, Antonius C M" sort="Leyten, Antonius C M" uniqKey="Leyten A" first="Antonius C. M." last="Leyten">Antonius C. M. Leyten</name><affiliation><mods:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name><affiliation><mods:affiliation>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Teepen, Johannes L J M" sort="Teepen, Johannes L J M" uniqKey="Teepen J" first="Johannes L. J. M." last="Teepen">Johannes L. J. M. Teepen</name><affiliation><mods:affiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Roos, Raymund A C" sort="Roos, Raymund A C" uniqKey="Roos R" first="Raymund A. C." last="Roos">Raymund A. C. Roos</name><affiliation><mods:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</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="2002-05">2002-05</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="482">482</biblScope><biblScope unit="page" to="487">487</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">211D1509CA5B62371B1C991B180C5D74C9552BEA</idno><idno type="DOI">10.1002/mds.10104</idno><idno type="ArticleID">MDS10104</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>123I‐IBZM SPECT</term><term>autosomal dominant</term><term>myoclonus</term><term>neuronal ceroid lipofuscinosis</term><term>parkinsonism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. 123I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Peter C.G. Nijssen MD</name><affiliations><json:string>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</json:string></affiliations></json:item><json:item><name>Esther Brusse MD</name><affiliations><json:string>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</json:string></affiliations></json:item><json:item><name>Antonius C.M. Leyten MD</name><affiliations><json:string>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</json:string></affiliations></json:item><json:item><name>J.J. Martin MD, PhD</name><affiliations><json:string>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</json:string></affiliations></json:item><json:item><name>Johannes L.J.M. Teepen MD, PhD</name><affiliations><json:string>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</json:string></affiliations></json:item><json:item><name>Raymund A.C. Roos MD, PhD</name><affiliations><json:string>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>neuronal ceroid lipofuscinosis</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>myoclonus</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>autosomal dominant</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>123I‐IBZM SPECT</value></json:item></subject><language><json:string>eng</json:string></language><abstract>We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. 123I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.</abstract><qualityIndicators><score>5.43</score><pdfVersion>1.4</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1347</abstractCharCount><pdfWordCount>2650</pdfWordCount><pdfCharCount>17968</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>190</abstractWordCount></qualityIndicators><title>Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title><genre><json:string>Serial article</json:string></genre><host><volume>17</volume><pages><total>6</total><last>487</last><first>482</first></pages><issn><json:string>0885-3185</json:string></issn><issue>3</issue><subject><json:item><value>Research Article</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.10104</json:string></doi><id>211D1509CA5B62371B1C991B180C5D74C9552BEA</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/211D1509CA5B62371B1C991B180C5D74C9552BEA/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/211D1509CA5B62371B1C991B180C5D74C9552BEA/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/211D1509CA5B62371B1C991B180C5D74C9552BEA/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</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><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title><author><persName><forename type="first">Peter C.G.</forename><surname>Nijssen</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: St. Elisabeth Hospital, Hilvarenbeekseweg 60, P.O. Box 90151, 5000 LC Tilburg, The Netherlands</p></note><affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation></author><author><persName><forename type="first">Esther</forename><surname>Brusse</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation></author><author><persName><forename type="first">Antonius C.M.</forename><surname>Leyten</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation></author><author><persName><forename type="first">J.J.</forename><surname>Martin</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</affiliation></author><author><persName><forename type="first">Johannes L.J.M.</forename><surname>Teepen</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation></author><author><persName><forename type="first">Raymund A.C.</forename><surname>Roos</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</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="2002-05"></date><biblScope unit="vol">17</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="482">482</biblScope><biblScope unit="page" to="487">487</biblScope></imprint></monogr><idno type="istex">211D1509CA5B62371B1C991B180C5D74C9552BEA</idno><idno type="DOI">10.1002/mds.10104</idno><idno type="ArticleID">MDS10104</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2002</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. 123I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>neuronal ceroid lipofuscinosis</term></item><item><term>parkinsonism</term></item><item><term>myoclonus</term></item><item><term>autosomal dominant</term></item><item><term>123I‐IBZM SPECT</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2000-07-05">Received</change><change when="2001-05-25">Registration</change><change when="2002-05">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/211D1509CA5B62371B1C991B180C5D74C9552BEA/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="30"><doi origin="wiley" registered="yes">10.1002/mds.v17:3</doi><numberingGroup><numbering type="journalVolume" number="17">17</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="2002-05">May/June 2002</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="70" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.10104</doi><idGroup><id type="unit" value="MDS10104"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2002 Movement Disorders Society</copyright><eventGroup><event type="manuscriptReceived" date="2000-07-05"></event><event type="manuscriptRevised" date="2001-03-22"></event><event type="manuscriptAccepted" date="2001-05-25"></event><event type="publishedOnlineEarlyUnpaginated" date="2002-01-18"></event><event type="firstOnline" date="2002-01-18"></event><event type="publishedOnlineFinalForm" date="2002-05-31"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></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="2014-11-01"></event></eventGroup><numberingGroup><numbering type="pageFirst">482</numbering><numbering type="pageLast">487</numbering></numberingGroup><correspondenceTo>St. Elisabeth Hospital, Hilvarenbeekseweg 60, P.O. Box 90151, 5000 LC Tilburg, The Netherlands</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS10104.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="2584"></count></countGroup><titleGroup><title type="main" xml:lang="en">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title><title type="short" xml:lang="en">ANCL</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Peter C.G.</givenNames><familyName>Nijssen</familyName><degrees>MD</degrees></personName><contactDetails><email>p.nijssen@elisabeth.nl</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Esther</givenNames><familyName>Brusse</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Antonius C.M.</givenNames><familyName>Leyten</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>J.J.</givenNames><familyName>Martin</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Johannes L.J.M.</givenNames><familyName>Teepen</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Raymund A.C.</givenNames><familyName>Roos</familyName><degrees>MD, PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="NL" type="organization"><unparsedAffiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="BE" type="organization"><unparsedAffiliation>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">neuronal ceroid lipofuscinosis</keyword><keyword xml:id="kwd2">parkinsonism</keyword><keyword xml:id="kwd3">myoclonus</keyword><keyword xml:id="kwd4">autosomal dominant</keyword><keyword xml:id="kwd5"><sup>123</sup>I‐IBZM SPECT</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. <sup>123</sup>I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>ANCL</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title></titleInfo><name type="personal"><namePart type="given">Peter C.G.</namePart><namePart type="family">Nijssen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation><description>Correspondence: St. Elisabeth Hospital, Hilvarenbeekseweg 60, P.O. Box 90151, 5000 LC Tilburg, The Netherlands</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Esther</namePart><namePart type="family">Brusse</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonius C.M.</namePart><namePart type="family">Leyten</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.J.</namePart><namePart type="family">Martin</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johannes L.J.M.</namePart><namePart type="family">Teepen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Raymund A.C.</namePart><namePart type="family">Roos</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</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">2002-05</dateIssued><dateCaptured encoding="w3cdtf">2000-07-05</dateCaptured><dateValid encoding="w3cdtf">2001-05-25</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">3</extent><extent unit="tables">1</extent><extent unit="references">15</extent><extent unit="words">2584</extent></physicalDescription><abstract lang="en">We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. 123I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.</abstract><subject lang="en"><genre>Keywords</genre><topic>neuronal ceroid lipofuscinosis</topic><topic>parkinsonism</topic><topic>myoclonus</topic><topic>autosomal dominant</topic><topic>123I‐IBZM 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>Research Article</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>3</number></detail><extent unit="pages"><start>482</start><end>487</end><total>6</total></extent></part></relatedItem><identifier type="istex">211D1509CA5B62371B1C991B180C5D74C9552BEA</identifier><identifier type="DOI">10.1002/mds.10104</identifier><identifier type="ArticleID">MDS10104</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 001E86 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001E86 | 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:211D1509CA5B62371B1C991B180C5D74C9552BEA
|texte= Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
}}
| This area was generated with Dilib version V0.6.23. |  |