title: Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene.
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 alpha(1) subunit of the glycine receptor (GLRA1) underwent single voxel (1)H 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.
authors.affiliation: Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. M.A.Tijssen@amc.uva.nl
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
authors.forename: Peter
authors.initials: P
authors.lastname: Brown
authors.forename: David
authors.initials: D
authors.lastname: MacManus
authors.forename: Mary A
authors.initials: MA
authors.lastname: McLean
authors.forename: Charles
authors.initials: C
authors.lastname: Davie
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001927:Brain Diseases / Q000145:classification* / Q000235:genetics* / Q000378:metabolism; D001933:Brain Stem / Q000378:metabolism; D002540:Cerebral Cortex / Q000033:anatomy & histology* / Q000378:metabolism; D005260:Female; D005625:Frontal Lobe / Q000378:metabolism; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011149:Pons / Q000378:metabolism; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle / Q000502:physiology*; D013577:Syndrome
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine; D001224:Aspartic Acid; C000179:N-acetylaspartate