Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
Identifieur interne : 004045 ( Main/Exploration ); précédent : 004044; suivant : 004046Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
Auteurs : Marina A. J. Tijssen [Pays-Bas, Royaume-Uni] ; Peter Brown [Royaume-Uni] ; David Macmanus [Royaume-Uni] ; Mary A. Mclean [Royaume-Uni] ; Charles Davie [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-12.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
English descriptors
- KwdEn :
- Adolescent, Adult, Aspartic Acid (analogs & derivatives), Aspartic Acid (metabolism), Brain Diseases (classification), Brain Diseases (genetics), Brain Diseases (metabolism), Brain Stem (metabolism), Cerebral Cortex (anatomy & histology), Cerebral Cortex (metabolism), Cerebral cortex, Exploration, Female, Frontal Lobe (metabolism), Gene, Gene Expression (genetics), Glycine receptor, Humans, Hyperekplexia, MR spectroscopy, Magnetic Resonance Spectroscopy, Male, Middle Aged, Mutation, NMR spectrometry, Point Mutation (genetics), Pons (metabolism), Proton, Receptors, Glycine (genetics), Reflex, Startle (physiology), Startle epilepsy, Subunit, Syndrome, hereditary, hyperekplexia.
- MESH :
- chemical , analogs & derivatives : Aspartic Acid.
- chemical , genetics : Receptors, Glycine.
- chemical , metabolism : Aspartic Acid.
- anatomy & histology : Cerebral Cortex.
- classification : Brain Diseases.
- genetics : Brain Diseases, Gene Expression, Point Mutation.
- metabolism : Brain Diseases, Brain Stem, Cerebral Cortex, Frontal Lobe, Pons.
- physiology : Reflex, Startle.
- Adolescent, Adult, Female, Humans, Magnetic Resonance Spectroscopy, Male, Middle Aged, Syndrome.
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
Affiliations:
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Le document en format XML
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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><affiliations><list><country><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Pays-Bas"><noRegion><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></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><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="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name><name sortKey="Davie, Charles" sort="Davie, Charles" uniqKey="Davie C" first="Charles" last="Davie">Charles Davie</name><name sortKey="Macmanus, David" sort="Macmanus, David" uniqKey="Macmanus D" first="David" last="Macmanus">David Macmanus</name><name sortKey="Mclean, Mary A" sort="Mclean, Mary A" uniqKey="Mclean M" first="Mary A." last="Mclean">Mary A. Mclean</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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