Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
✍ Scribed by Marina A.J. Tijssen; Peter Brown; David MacManus; Mary A. McLean; Charles Davie
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 87 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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 α~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. © 2003 Movement Disorder Society