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This condition is also known as 'stiff baby syndrome' or 'startle disease' Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the [alpha]-1 subunit of the inhibitory glycine receptors in the caudal pontine reticular formation leading to neuronal hyperexcitability.
The brain glucose metabolism increases significantly in the thalamus, the limbic system and the pontine reticular formation during REM sleep as compared to quiet wakefulness (15).
Vestibular and optokinetic inputs come from the vestibular nuclei, saccadic commands arise from burst neurons in the paramedian pontine reticular formation (PPRF), pursuit signals from the cerebellum are relayed in vestibular nuclei and the signal required to hold the eye steady in its new position (gaze-holding mechanism) reaches the abducens nuclei from the nucleus prepositus hypoglossi.