Major and minor form of hereditary hyperekplexia
Identifieur interne : 002698 ( PascalFrancis/Checkpoint ); précédent : 002697; suivant : 002699Major and minor form of hereditary hyperekplexia
Auteurs : Marina A. J. Tijssen [Pays-Bas] ; Monique N. Vergouwe [Pays-Bas] ; J. Gert Van Dijk [Pays-Bas] ; Michelle Rees [Royaume-Uni] ; Rune R. Fronts [Pays-Bas] ; Peter Brown [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2002.
Descripteurs français
- Pascal (Inist)
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- topic : Adulte.
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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 (GLRAI 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 GLRA I gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRAI 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 GLRA I gene.
Affiliations:
- Pays-Bas, Royaume-Uni
- Angleterre, Grand Londres, Hollande-Méridionale, Hollande-Septentrionale
- Amsterdam, Leyde, Londres
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Major and minor form of hereditary hyperekplexia</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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Amsterdam Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Vergouwe, Monique N" sort="Vergouwe, Monique N" uniqKey="Vergouwe M" first="Monique N." last="Vergouwe">Monique N. Vergouwe</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>MGC-Department of Human Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Dijk, J Gert" sort="Van Dijk, J Gert" uniqKey="Van Dijk J" first="J. Gert" last="Van Dijk">J. Gert Van Dijk</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Clinical Neurophysiology, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>3 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Rees, Michelle" sort="Rees, Michelle" uniqKey="Rees M" first="Michelle" last="Rees">Michelle Rees</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Paediatrics & Child Health, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fronts, Rune R" sort="Fronts, Rune R" uniqKey="Fronts R" first="Rune R." last="Fronts">Rune R. Fronts</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>MGC-Department of Human Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Sobell Department of Neurophysiology, The Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">02-0456881</idno><date when="2002">2002</date><idno type="stanalyst">PASCAL 02-0456881 INIST</idno><idno type="RBID">Pascal:02-0456881</idno><idno type="wicri:Area/PascalFrancis/Corpus">002676</idno><idno type="wicri:Area/PascalFrancis/Curation">000645</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002698</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Major and minor form of hereditary hyperekplexia</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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Amsterdam Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Vergouwe, Monique N" sort="Vergouwe, Monique N" uniqKey="Vergouwe M" first="Monique N." last="Vergouwe">Monique N. Vergouwe</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>MGC-Department of Human Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Dijk, J Gert" sort="Van Dijk, J Gert" uniqKey="Van Dijk J" first="J. Gert" last="Van Dijk">J. Gert Van Dijk</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Clinical Neurophysiology, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>3 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Rees, Michelle" sort="Rees, Michelle" uniqKey="Rees M" first="Michelle" last="Rees">Michelle Rees</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Paediatrics & Child Health, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fronts, Rune R" sort="Fronts, Rune R" uniqKey="Fronts R" first="Rune R." last="Fronts">Rune R. Fronts</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>MGC-Department of Human Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Sobell Department of Neurophysiology, The Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002">2002</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Case study</term><term>Female</term><term>Gene</term><term>Genetic determinism</term><term>Glycine receptor</term><term>Hyperekplexia</term><term>Mutation</term><term>Phenotype</term><term>Startle epilepsy</term><term>Subunit</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Epilepsie sursaut</term><term>Phénotype</term><term>Mutation</term><term>Gène</term><term>Récepteur glycine</term><term>Sousunité</term><term>Déterminisme génétique</term><term>Etude cas</term><term>Adulte</term><term>Femelle</term><term>Hyperekplexie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term></keywords></textClass></profileDesc></teiHeader><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 (GLRAI 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 GLRA I gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRAI 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 GLRA I gene.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>17</s2></fA05><fA06><s2>4</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Major and minor form of hereditary hyperekplexia</s1></fA08><fA11 i1="01" i2="1"><s1>TIJSSEN (Marina A. J.)</s1></fA11><fA11 i1="02" i2="1"><s1>VERGOUWE (Monique N.)</s1></fA11><fA11 i1="03" i2="1"><s1>VAN DIJK (J. Gert)</s1></fA11><fA11 i1="04" i2="1"><s1>REES (Michelle)</s1></fA11><fA11 i1="05" i2="1"><s1>FRONTS (Rune R.)</s1></fA11><fA11 i1="06" i2="1"><s1>BROWN (Peter)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, Amsterdam Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>MGC-Department of Human Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Clinical Neurophysiology, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Paediatrics & Child Health, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></fA14><fA14 i1="05"><s1>Sobell Department of Neurophysiology, The Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>6 aut.</sZ></fA14><fA20><s1>826-830</s1></fA20><fA21><s1>2002</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000108922560360</s5></fA43><fA44><s0>0000</s0><s1>© 2002 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>38 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>02-0456881</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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 (GLRAI 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 GLRA I gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRAI 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 GLRA I gene.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17A03</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Epilepsie sursaut</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Startle epilepsy</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Epilepsia sobresalto</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Phénotype</s0><s5>04</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Phenotype</s0><s5>04</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Fenotipo</s0><s5>04</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>07</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>07</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>07</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Gène</s0><s5>08</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Gene</s0><s5>08</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Gen</s0><s5>08</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Récepteur glycine</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Glycine receptor</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Receptor glicina</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Sousunité</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Subunit</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Subunitad</s0><s5>11</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Déterminisme génétique</s0><s5>17</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Genetic determinism</s0><s5>17</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Determinismo genético</s0><s5>17</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Etude cas</s0><s5>18</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Case study</s0><s5>18</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Estudio caso</s0><s5>18</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Adulte</s0><s5>20</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>Adult</s0><s5>20</s5></fC03><fC03 i1="09" i2="X" l="SPA"><s0>Adulto</s0><s5>20</s5></fC03><fC03 i1="10" i2="X" l="FRE"><s0>Femelle</s0><s5>21</s5></fC03><fC03 i1="10" i2="X" l="ENG"><s0>Female</s0><s5>21</s5></fC03><fC03 i1="10" i2="X" l="SPA"><s0>Hembra</s0><s5>21</s5></fC03><fC03 i1="11" i2="X" l="FRE"><s0>Hyperekplexie</s0><s4>CD</s4><s5>96</s5></fC03><fC03 i1="11" i2="X" l="ENG"><s0>Hyperekplexia</s0><s4>CD</s4><s5>96</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Human</s0></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso central</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>39</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>40</s5></fC07><fN21><s1>266</s1></fN21><fN82><s1>PSI</s1></fN82></pA></standard></inist><affiliations><list><country><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Leyde</li><li>Londres</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><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></region><name sortKey="Fronts, Rune R" sort="Fronts, Rune R" uniqKey="Fronts R" first="Rune R." last="Fronts">Rune R. Fronts</name><name sortKey="Van Dijk, J Gert" sort="Van Dijk, J Gert" uniqKey="Van Dijk J" first="J. Gert" last="Van Dijk">J. Gert Van Dijk</name><name sortKey="Vergouwe, Monique N" sort="Vergouwe, Monique N" uniqKey="Vergouwe M" first="Monique N." last="Vergouwe">Monique N. Vergouwe</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rees, Michelle" sort="Rees, Michelle" uniqKey="Rees M" first="Michelle" last="Rees">Michelle Rees</name></region><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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