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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.

Original publication




Journal article


Mov Disord

Publication Date





1538 - 1541


Adolescent, Adult, Aspartic Acid, Brain Diseases, Brain Stem, Cerebral Cortex, Female, Frontal Lobe, Gene Expression, Humans, Magnetic Resonance Spectroscopy, Male, Middle Aged, Point Mutation, Pons, Receptors, Glycine, Reflex, Startle, Syndrome