RT Journal Article
SR Electronic
T1 Pontine hyperperfusion in sporadic hyperekplexia
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 1001
OP 1004
DO 10.1136/jnnp.2006.113837
VO 78
IS 9
A1 Roberto Vetrugno
A1 Mario Mascalchi
A1 Alessandra Vella
A1 Riccardo Della Nave
A1 Laura Guerrini
A1 Angelo Vattimo
A1 Emanuele Miraglia del Giudice
A1 Giuseppe Plazzi
A1 Roberto D’Angelo
A1 Giovanni Greco
A1 Pasquale Montagna
YR 2007
UL http://jnnp.bmj.com/content/78/9/1001.abstract
AB Objective: To explore with neuroimaging techniques the anatomical and functional correlates of sporadic hyperekplexia. Methods: Two elderly women with sporadic hyperekplexia underwent neurophysiological assessment, MRI of the brain and proton magnetic resonance spectroscopy (1H-MRS) of the brainstem and frontal lobes. Regional cerebral blood flow was investigated with single photon emission tomography (SPECT) during evoked startles and at rest. Results: Both patients showed excessively large and non-habituating startle responses. In both patients, MRI showed impingement of the brainstem by the vertebrobasilar artery, lack of frontal or brainstem abnormalities on 1H-MRS and hyperperfusion in the dorsal pons and cingulate cortex, and superior frontal gyrus at SPECT during evoked startles. Conclusions: In our patients with hyperekplexia, the vertebrobasilar arteries were found to impinge on the brainstem. Neurophysiological findings and neurofunctional imaging of evoked startles indicated a pontine origin of the movement disorder modulated by activation in cortical, especially frontal, areas. The neurofunctional correlates of evoked startles in human sporadic hyperekplexia are similar to those observed for the startle circuit in animals.