Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
Copyright policy )Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
AbstractExcessive 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
- University of Groningen Netherlands
- University of Oxford United Kingdom
- University of Amsterdam Netherlands
- Amsterdam UMC, location AMC Netherlands
- UCL Queen Square Institute of Neurology United Kingdom
DISORDER, Adult, Male, Reflex, Startle, Magnetic Resonance Spectroscopy, Adolescent, Gene Expression, Receptors, Glycine, Pons, Humans, Point Mutation, Cerebral Cortex, Aspartic Acid, Brain Diseases, MR spectroscopy, Syndrome, Middle Aged, INHIBITORY GLYCINE-RECEPTOR, STARTLE DISEASE, HYPEREXPLEXIA, FAMILY, Frontal Lobe, SPORADIC HYPEREKPLEXIA, hyperekplexia, SUBUNIT, Female, hereditary, RESPONSES, Brain Stem
DISORDER, Adult, Male, Reflex, Startle, Magnetic Resonance Spectroscopy, Adolescent, Gene Expression, Receptors, Glycine, Pons, Humans, Point Mutation, Cerebral Cortex, Aspartic Acid, Brain Diseases, MR spectroscopy, Syndrome, Middle Aged, INHIBITORY GLYCINE-RECEPTOR, STARTLE DISEASE, HYPEREXPLEXIA, FAMILY, Frontal Lobe, SPORADIC HYPEREKPLEXIA, hyperekplexia, SUBUNIT, Female, hereditary, RESPONSES, Brain Stem
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