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Pontine hyperperfusion in sporadic hyperekplexia.

Roberto Vetrugno¹, Mario Mascalchi, Alessandra Vella

¹Department of Neurological Sciences, University of Bologna, Bologna, Italy. vetrugno@neuro.unibo.it

Journal of Neurology, Neurosurgery, and Psychiatry

|August 21, 2007

Summary

Sporadic hyperekplexia in two women was linked to brainstem artery impingement. Neuroimaging revealed a pontine origin for the disorder, modulated by frontal brain activity.

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Published on: December 6, 2016

Area of Science:

Neuroscience
Neurology
Medical Imaging

Background:

Sporadic hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses.
Understanding its neuroanatomical and functional underpinnings is crucial for diagnosis and treatment.

Observation:

Two elderly female patients with sporadic hyperekplexia were evaluated using neurophysiological tests, MRI, and proton magnetic resonance spectroscopy (1H-MRS).
Regional cerebral blood flow was assessed using single photon emission tomography (SPECT) during rest and evoked startles.

Findings:

Both patients exhibited exaggerated, non-habituating startle responses.
MRI revealed vertebrobasilar artery impingement on the brainstem in both individuals.
SPECT showed hyperperfusion in the dorsal pons, cingulate cortex, and superior frontal gyrus during evoked startles, with no abnormalities on 1H-MRS.

Implications:

Findings suggest vertebrobasilar artery impingement on the brainstem contributes to sporadic hyperekplexia.
Neuroimaging indicates a pontine origin of the disorder, modulated by cortical (especially frontal) activation.
The identified neurofunctional correlates of evoked startles in humans resemble those found in animal models.