Major and minor form of hereditary hyperekplexia
Identifieur interne : 004394 ( Main/Exploration ); précédent : 004393; suivant : 004395Major 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. Frants [Pays-Bas] ; Peter Brown [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-07.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Case study, DNA Mutational Analysis, Female, Gene, Genetic Markers (genetics), Genetic Testing, Genetic determinism, Glycine receptor, Heterozygote Detection, Humans, Hyperekplexia, Male, Mutation, Neurologic Examination, Pedigree, Phenotype, Receptors, Glycine (genetics), Reflex, Abnormal (genetics), Reflex, Abnormal (physiology), Reflex, Startle (genetics), Reflex, Startle (physiology), Startle epilepsy, Subunit, genetic analysis, hyperekplexia, minor form.
- 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 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
Url:
DOI: 10.1002/mds.10168
Affiliations:
- Pays-Bas, Royaume-Uni
- Angleterre, Grand Londres, Hollande-Méridionale, Hollande-Septentrionale
- Amsterdam, Leyde, Londres
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Le document en format XML
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J." last="Tijssen">Marina A. J. Tijssen</name><affiliation wicri:level="3"><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><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>MGC‐Department of Human Genetics, Leiden University Medical Center, Leiden</wicri:regionArea><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. 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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></front></TEI><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="Frants, Rune R" sort="Frants, Rune R" uniqKey="Frants R" first="Rune R." last="Frants">Rune R. Frants</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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