Major and minor form of hereditary hyperekplexia.
Identifieur interne : 000850 ( Ncbi/Curation ); précédent : 000849; suivant : 000851Major and minor form of hereditary hyperekplexia.
Auteurs : Marina A J. Tijssen [Pays-Bas] ; Monique N. Vergouwe ; J Gert Van Dijk ; Michelle Rees ; Rune R. Frants ; Peter BrownSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, DNA Mutational Analysis, Female, Genetic Markers (genetics), Genetic Testing, Heterozygote Detection, Humans, Male, Neurologic Examination, Pedigree, Receptors, Glycine (genetics), Reflex, Abnormal (genetics), Reflex, Abnormal (physiology), Reflex, Startle (genetics), Reflex, Startle (physiology).
- MESH :
- chemical , genetics : Genetic Markers, Receptors, Glycine.
- genetics : Reflex, Abnormal, Reflex, Startle.
- physiology : Reflex, Abnormal, Reflex, Startle.
- Adolescent, Adult, Aged, DNA Mutational Analysis, Female, Genetic Testing, Heterozygote Detection, Humans, Male, Neurologic Examination, Pedigree.
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 alpha-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.
DOI: 10.1002/mds.10168
PubMed: 12210885
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Vergouwe</name></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></author><author><name sortKey="Rees, Michelle" sort="Rees, Michelle" uniqKey="Rees M" first="Michelle" last="Rees">Michelle Rees</name></author><author><name sortKey="Frants, Rune R" sort="Frants, Rune R" uniqKey="Frants R" first="Rune R" last="Frants">Rune R. Frants</name></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12210885</idno><idno type="pmid">12210885</idno><idno type="doi">10.1002/mds.10168</idno><idno type="wicri:Area/PubMed/Corpus">003A01</idno><idno type="wicri:Area/PubMed/Curation">003A01</idno><idno type="wicri:Area/PubMed/Checkpoint">003A30</idno><idno type="wicri:Area/Ncbi/Merge">000850</idno><idno type="wicri:Area/Ncbi/Curation">000850</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands. M.A.Tijssen@amc.uva.nl</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><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></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></author><author><name sortKey="Rees, Michelle" sort="Rees, Michelle" uniqKey="Rees M" first="Michelle" last="Rees">Michelle Rees</name></author><author><name sortKey="Frants, Rune R" sort="Frants, Rune R" uniqKey="Frants R" first="Rune R" last="Frants">Rune R. Frants</name></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Markers (genetics)</term><term>Genetic Testing</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Pedigree</term><term>Receptors, Glycine (genetics)</term><term>Reflex, Abnormal (genetics)</term><term>Reflex, Abnormal (physiology)</term><term>Reflex, Startle (genetics)</term><term>Reflex, Startle (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term><term>Receptors, Glycine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Reflex, Abnormal</term><term>Reflex, Startle</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Reflex, Abnormal</term><term>Reflex, Startle</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Testing</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Pedigree</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 alpha-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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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