Major and minor form of hereditary hyperekplexia
Identifieur interne : 001A82 ( Istex/Corpus ); précédent : 001A81; suivant : 001A83Major and minor form of hereditary hyperekplexia
Auteurs : Marina A. J. Tijssen ; Monique N. Vergouwe ; J. Gert Van Dijk ; Michelle Rees ; Rune R. Frants ; Peter BrownSource :
- Movement Disorders [ 0885-3185 ] ; 2002-07.
English descriptors
- KwdEn :
Abstract
Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied by temporary generalized stiffness and falls, whereas in the minor form only excessive startle and hypnic jerks have been described. Mutations in the gene encoding the α‐1 subunit of the glycine receptor (GLRA1) are responsible for the major form of hyperekplexia but no mutation was detected in patients with the minor form in the large Dutch pedigree originally described by Suhren and colleagues. Here we describe the genetic analysis of the GLRA1 gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRA1 gene in patients carrying either the minor or major forms. This is further evidence that the minor form of hyperekplexia is seldom due to a genetic defect in the GLRA1 gene. © 2002 Movement Disorder Society
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DOI: 10.1002/mds.10168
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<front><div type="abstract" xml:lang="en">Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied by temporary generalized stiffness and falls, whereas in the minor form only excessive startle and hypnic jerks have been described. Mutations in the gene encoding the α‐1 subunit of the glycine receptor (GLRA1) are responsible for the major form of hyperekplexia but no mutation was detected in patients with the minor form in the large Dutch pedigree originally described by Suhren and colleagues. Here we describe the genetic analysis of the GLRA1 gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRA1 gene in patients carrying either the minor or major forms. This is further evidence that the minor form of hyperekplexia is seldom due to a genetic defect in the GLRA1 gene. © 2002 Movement Disorder Society</div>
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<!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Major and minor form of hereditary hyperekplexia</title>
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<titleInfo type="abbreviated" lang="en"><title>Major and Minor Form of Hyperekplexia</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Major and minor form of hereditary hyperekplexia</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, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation>
<description>Correspondence: Department of Neurology H2‐222, Academic Medical Center, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands</description>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Monique N.</namePart>
<namePart type="family">Vergouwe</namePart>
<affiliation>MGC‐Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">J. Gert</namePart>
<namePart type="family">van Dijk</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Clinical Neurophysiology, Leiden University Medical Center, Leiden, The Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Michelle</namePart>
<namePart type="family">Rees</namePart>
<affiliation>Department of Paediatrics & Child Health, Royal Free and University College Medical School, London, United Kingdom</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Rune R.</namePart>
<namePart type="family">Frants</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>MGC‐Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</affiliation>
<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, FRCP</namePart>
<affiliation>Sobell Department of Neurophysiology, The 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">New York</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2002-07</dateIssued>
<dateCaptured encoding="w3cdtf">2001-07-25</dateCaptured>
<dateValid encoding="w3cdtf">2001-12-10</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">1</extent>
<extent unit="references">38</extent>
<extent unit="words">3132</extent>
</physicalDescription>
<abstract lang="en">Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied by temporary generalized stiffness and falls, whereas in the minor form only excessive startle and hypnic jerks have been described. Mutations in the gene encoding the α‐1 subunit of the glycine receptor (GLRA1) are responsible for the major form of hyperekplexia but no mutation was detected in patients with the minor form in the large Dutch pedigree originally described by Suhren and colleagues. Here we describe the genetic analysis of the GLRA1 gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRA1 gene in patients carrying either the minor or major forms. This is further evidence that the minor form of hyperekplexia is seldom due to a genetic defect in the GLRA1 gene. © 2002 Movement Disorder Society</abstract>
<subject lang="en"><genre>Keywords</genre>
<topic>hyperekplexia</topic>
<topic>minor form</topic>
<topic>genetic analysis</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>2002</date>
<detail type="volume"><caption>vol.</caption>
<number>17</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>4</number>
</detail>
<extent unit="pages"><start>826</start>
<end>830</end>
<total>5</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">EB1827FA9FD90F5E2C3D9E713D061E2B561E30D3</identifier>
<identifier type="DOI">10.1002/mds.10168</identifier>
<identifier type="ArticleID">MDS10168</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>
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