Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
Identifieur interne : 003112 ( Istex/Corpus ); précédent : 003111; suivant : 003113Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
Auteurs : Marina A. J. Tijssen ; Peter Brown ; David Macmanus ; Mary A. Mclean ; Charles DavieSource :
- Movement Disorders [ 0885-3185 ] ; 2003-12.
English descriptors
- KwdEn :
Abstract
Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α1 subunit of the glycine receptor (GLRA1) underwent single voxel 1H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites. The results of MRS were within normal limits, although there was a tendency for the neuronal marker N‐acetyl aspartate to be reduced in the brainstem of patients compared with that in controls. Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10613
Links to Exploration step
ISTEX:ACBB3C56F8F47A0B933D0432FD573A98BBB5D448Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation><mods:affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name>
<affiliation><mods:affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Macmanus, David" sort="Macmanus, David" uniqKey="Macmanus D" first="David" last="Macmanus">David Macmanus</name>
<affiliation><mods:affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mclean, Mary A" sort="Mclean, Mary A" uniqKey="Mclean M" first="Mary A." last="Mclean">Mary A. Mclean</name>
<affiliation><mods:affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Davie, Charles" sort="Davie, Charles" uniqKey="Davie C" first="Charles" last="Davie">Charles Davie</name>
<affiliation><mods:affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:ACBB3C56F8F47A0B933D0432FD573A98BBB5D448</idno>
<date when="2003" year="2003">2003</date>
<idno type="doi">10.1002/mds.10613</idno>
<idno type="url">https://api.istex.fr/document/ACBB3C56F8F47A0B933D0432FD573A98BBB5D448/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003112</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation><mods:affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name>
<affiliation><mods:affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Macmanus, David" sort="Macmanus, David" uniqKey="Macmanus D" first="David" last="Macmanus">David Macmanus</name>
<affiliation><mods:affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mclean, Mary A" sort="Mclean, Mary A" uniqKey="Mclean M" first="Mary A." last="Mclean">Mary A. Mclean</name>
<affiliation><mods:affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Davie, Charles" sort="Davie, Charles" uniqKey="Davie C" first="Charles" last="Davie">Charles Davie</name>
<affiliation><mods:affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</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>Hoboken</pubPlace>
<date type="published" when="2003-12">2003-12</date>
<biblScope unit="vol">18</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="1538">1538</biblScope>
<biblScope unit="page" to="1541">1541</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">ACBB3C56F8F47A0B933D0432FD573A98BBB5D448</idno>
<idno type="DOI">10.1002/mds.10613</idno>
<idno type="ArticleID">MDS10613</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>MR spectroscopy</term>
<term>hereditary</term>
<term>hyperekplexia</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α1 subunit of the glycine receptor (GLRA1) underwent single voxel 1H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites. The results of MRS were within normal limits, although there was a tendency for the neuronal marker N‐acetyl aspartate to be reduced in the brainstem of patients compared with that in controls. Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene. © 2003 Movement Disorder Society</div>
</front>
</TEI>
<istex><corpusName>wiley</corpusName>
<author><json:item><name>Marina A.J. Tijssen MD, PhD</name>
<affiliations><json:string>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</json:string>
<json:string>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</json:string>
</affiliations>
</json:item>
<json:item><name>Peter Brown MD, PhD</name>
<affiliations><json:string>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</json:string>
</affiliations>
</json:item>
<json:item><name>David MacManus MSc</name>
<affiliations><json:string>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</json:string>
</affiliations>
</json:item>
<json:item><name>Mary A. McLean MD, PhD</name>
<affiliations><json:string>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</json:string>
</affiliations>
</json:item>
<json:item><name>Charles Davie MD, PhD</name>
<affiliations><json:string>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</json:string>
</affiliations>
</json:item>
</author>
<subject><json:item><lang><json:string>eng</json:string>
</lang>
<value>hyperekplexia</value>
</json:item>
<json:item><lang><json:string>eng</json:string>
</lang>
<value>hereditary</value>
</json:item>
<json:item><lang><json:string>eng</json:string>
</lang>
<value>MR spectroscopy</value>
</json:item>
</subject>
<language><json:string>eng</json:string>
</language>
<abstract>Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α1 subunit of the glycine receptor (GLRA1) underwent single voxel 1H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites. The results of MRS were within normal limits, although there was a tendency for the neuronal marker N‐acetyl aspartate to be reduced in the brainstem of patients compared with that in controls. Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene. © 2003 Movement Disorder Society</abstract>
<qualityIndicators><score>3.799</score>
<pdfVersion>1.3</pdfVersion>
<pdfPageSize>612 x 810 pts</pdfPageSize>
<refBibsNative>true</refBibsNative>
<abstractCharCount>858</abstractCharCount>
<pdfWordCount>2191</pdfWordCount>
<pdfCharCount>13638</pdfCharCount>
<pdfPageCount>4</pdfPageCount>
<abstractWordCount>134</abstractWordCount>
</qualityIndicators>
<title>Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
<genre><json:string>Serial article</json:string>
</genre>
<host><volume>18</volume>
<pages><total>4</total>
<last>1541</last>
<first>1538</first>
</pages>
<issn><json:string>0885-3185</json:string>
</issn>
<issue>12</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>2003</publicationDate>
<copyrightDate>2003</copyrightDate>
<doi><json:string>10.1002/mds.10613</json:string>
</doi>
<id>ACBB3C56F8F47A0B933D0432FD573A98BBB5D448</id>
<fulltext><json:item><original>true</original>
<mimetype>application/pdf</mimetype>
<extension>pdf</extension>
<uri>https://api.istex.fr/document/ACBB3C56F8F47A0B933D0432FD573A98BBB5D448/fulltext/pdf</uri>
</json:item>
<json:item><original>false</original>
<mimetype>application/zip</mimetype>
<extension>zip</extension>
<uri>https://api.istex.fr/document/ACBB3C56F8F47A0B933D0432FD573A98BBB5D448/fulltext/zip</uri>
</json:item>
<istex:fulltextTEI uri="https://api.istex.fr/document/ACBB3C56F8F47A0B933D0432FD573A98BBB5D448/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</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>2003</date>
</publicationStmt>
<sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
<author><persName><forename type="first">Marina A.J.</forename>
<surname>Tijssen</surname>
<roleName type="degree">MD, PhD</roleName>
</persName>
<note type="correspondence"><p>Correspondence: Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</p>
</note>
<affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</affiliation>
<affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</affiliation>
</author>
<author><persName><forename type="first">Peter</forename>
<surname>Brown</surname>
<roleName type="degree">MD, PhD</roleName>
</persName>
<affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</affiliation>
</author>
<author><persName><forename type="first">David</forename>
<surname>MacManus</surname>
<roleName type="degree">MSc</roleName>
</persName>
<affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</affiliation>
</author>
<author><persName><forename type="first">Mary A.</forename>
<surname>McLean</surname>
<roleName type="degree">MD, PhD</roleName>
</persName>
<affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</affiliation>
</author>
<author><persName><forename type="first">Charles</forename>
<surname>Davie</surname>
<roleName type="degree">MD, PhD</roleName>
</persName>
<affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</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>Hoboken</pubPlace>
<date type="published" when="2003-12"></date>
<biblScope unit="vol">18</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="1538">1538</biblScope>
<biblScope unit="page" to="1541">1541</biblScope>
</imprint>
</monogr>
<idno type="istex">ACBB3C56F8F47A0B933D0432FD573A98BBB5D448</idno>
<idno type="DOI">10.1002/mds.10613</idno>
<idno type="ArticleID">MDS10613</idno>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><creation><date>2003</date>
</creation>
<langUsage><language ident="en">en</language>
</langUsage>
<abstract xml:lang="en"><p>Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α1 subunit of the glycine receptor (GLRA1) underwent single voxel 1H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites. The results of MRS were within normal limits, although there was a tendency for the neuronal marker N‐acetyl aspartate to be reduced in the brainstem of patients compared with that in controls. Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene. © 2003 Movement Disorder Society</p>
</abstract>
<textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head>
<item><term>hyperekplexia</term>
</item>
<item><term>hereditary</term>
</item>
<item><term>MR spectroscopy</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="2002-12-20">Received</change>
<change when="2003-06-13">Registration</change>
<change when="2003-12">Published</change>
</revisionDesc>
</teiHeader>
</istex:fulltextTEI>
<json:item><original>false</original>
<mimetype>text/plain</mimetype>
<extension>txt</extension>
<uri>https://api.istex.fr/document/ACBB3C56F8F47A0B933D0432FD573A98BBB5D448/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="subtitle">Official Journal of the Movement Disorder Society</title>
<title type="short">Mov. Disord.</title>
</titleGroup>
</publicationMeta>
<publicationMeta level="part" position="120"><doi origin="wiley" registered="yes">10.1002/mds.v18:12</doi>
<numberingGroup><numbering type="journalVolume" number="18">18</numbering>
<numbering type="journalIssue">12</numbering>
</numberingGroup>
<coverDate startDate="2003-12">December 2003</coverDate>
</publicationMeta>
<publicationMeta level="unit" type="article" position="190" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.10613</doi>
<idGroup><id type="unit" value="MDS10613"></id>
</idGroup>
<countGroup><count type="pageTotal" number="4"></count>
</countGroup>
<titleGroup><title type="articleCategory">Brief Report</title>
<title type="tocHeading1">Brief Reports</title>
</titleGroup>
<copyright ownership="thirdParty">Copyright © 2003 Movement Disorder Society</copyright>
<eventGroup><event type="manuscriptReceived" date="2002-12-20"></event>
<event type="manuscriptRevised" date="2003-05-19"></event>
<event type="manuscriptAccepted" date="2003-06-13"></event>
<event type="publishedOnlineEarlyUnpaginated" date="2003-09-17"></event>
<event type="firstOnline" date="2003-09-17"></event>
<event type="publishedOnlineFinalForm" date="2003-12-05"></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="2014-10-31"></event>
</eventGroup>
<numberingGroup><numbering type="pageFirst">1538</numbering>
<numbering type="pageLast">1541</numbering>
</numberingGroup>
<correspondenceTo>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</correspondenceTo>
<linkGroup><link type="toTypesetVersion" href="file:MDS.MDS10613.pdf"></link>
</linkGroup>
</publicationMeta>
<contentMeta><countGroup><count type="figureTotal" number="1"></count>
<count type="tableTotal" number="0"></count>
<count type="referenceTotal" number="24"></count>
<count type="wordTotal" number="2346"></count>
</countGroup>
<titleGroup><title type="main" xml:lang="en">Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
<title type="short" xml:lang="en">MR Spectroscopy in Hyperekplexia</title>
</titleGroup>
<creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Marina A.J.</givenNames>
<familyName>Tijssen</familyName>
<degrees>MD, PhD</degrees>
</personName>
<contactDetails><email>M.A.Tijssen@amc.uva.nl</email>
</contactDetails>
</creator>
<creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Peter</givenNames>
<familyName>Brown</familyName>
<degrees>MD, PhD</degrees>
</personName>
</creator>
<creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>David</givenNames>
<familyName>MacManus</familyName>
<degrees>MSc</degrees>
</personName>
</creator>
<creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Mary A.</givenNames>
<familyName>McLean</familyName>
<degrees>MD, PhD</degrees>
</personName>
</creator>
<creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Charles</givenNames>
<familyName>Davie</familyName>
<degrees>MD, PhD</degrees>
</personName>
</creator>
</creators>
<affiliationGroup><affiliation xml:id="af1" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</unparsedAffiliation>
</affiliation>
</affiliationGroup>
<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">hyperekplexia</keyword>
<keyword xml:id="kwd2">hereditary</keyword>
<keyword xml:id="kwd3">MR spectroscopy</keyword>
</keywordGroup>
<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<p>Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α<sub>1</sub>
subunit of the glycine receptor (GLRA1) underwent single voxel <sup>1</sup>
H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites. The results of MRS were within normal limits, although there was a tendency for the neuronal marker <i>N</i>
‐acetyl aspartate to be reduced in the brainstem of patients compared with that in controls. Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene. © 2003 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>Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
</titleInfo>
<titleInfo type="abbreviated" lang="en"><title>MR Spectroscopy in Hyperekplexia</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene</title>
</titleInfo>
<name type="personal"><namePart type="given">Marina A.J.</namePart>
<namePart type="family">Tijssen</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</affiliation>
<affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</affiliation>
<description>Correspondence: Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands</description>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Peter</namePart>
<namePart type="family">Brown</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Sobell Department of Neurophysiology and Movement Disorders, Institute of Neurology, London, United Kingdom</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">David</namePart>
<namePart type="family">MacManus</namePart>
<namePart type="termsOfAddress">MSc</namePart>
<affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Mary A.</namePart>
<namePart type="family">McLean</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Charles</namePart>
<namePart type="family">Davie</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>NMR Unit, Institute of Neurology, Queen Square, London, United Kingdom</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">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2003-12</dateIssued>
<dateCaptured encoding="w3cdtf">2002-12-20</dateCaptured>
<dateValid encoding="w3cdtf">2003-06-13</dateValid>
<copyrightDate encoding="w3cdtf">2003</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="references">24</extent>
<extent unit="words">2346</extent>
</physicalDescription>
<abstract lang="en">Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α1 subunit of the glycine receptor (GLRA1) underwent single voxel 1H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites. The results of MRS were within normal limits, although there was a tendency for the neuronal marker N‐acetyl aspartate to be reduced in the brainstem of patients compared with that in controls. Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene. © 2003 Movement Disorder Society</abstract>
<subject lang="en"><genre>Keywords</genre>
<topic>hyperekplexia</topic>
<topic>hereditary</topic>
<topic>MR spectroscopy</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
</titleInfo>
<titleInfo type="abbreviated"><title>Mov. Disord.</title>
</titleInfo>
<subject><genre>article category</genre>
<topic>Brief 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>2003</date>
<detail type="volume"><caption>vol.</caption>
<number>18</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>12</number>
</detail>
<extent unit="pages"><start>1538</start>
<end>1541</end>
<total>4</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">ACBB3C56F8F47A0B933D0432FD573A98BBB5D448</identifier>
<identifier type="DOI">10.1002/mds.10613</identifier>
<identifier type="ArticleID">MDS10613</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003112 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 003112 | 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:ACBB3C56F8F47A0B933D0432FD573A98BBB5D448 |texte= Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |