title: Pontine hyperperfusion in sporadic hyperekplexia.
abstract: 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.
authors: Department of Neurological Sciences, University of Bologna, Bologna, Italy. vetrugno@neuro.unibo.it
authors: Roberto
authors: R
authors: Vetrugno
authors: Mario
authors: M
authors: Mascalchi
authors: Alessandra
authors: A
authors: Vella
authors: Riccardo
authors: R
authors: Della Nave
authors: Laura
authors: L
authors: Guerrini
authors: Angelo
authors: A
authors: Vattimo
authors: Emanuele Miraglia
authors: EM
authors: del Giudice
authors: Giuseppe
authors: G
authors: Plazzi
authors: Roberto
authors: R
authors: D'Angelo
authors: Giovanni
authors: G
authors: Greco
authors: Pasquale
authors: P
authors: Montagna
mesh_terms: D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D002560:Cerebrovascular Circulation / Q000502:physiology*; D005260:Female; D006801:Humans; D011877:Radionuclide Imaging; D012021:Reflex, Abnormal / Q000502:physiology*; D013216:Reflex, Startle / Q000502:physiology*
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