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Pontine hyperperfusion in sporadic hyperekplexia
  1. Roberto Vetrugno1,
  2. Mario Mascalchi2,
  3. Alessandra Vella3,
  4. Riccardo Della Nave2,
  5. Laura Guerrini2,
  6. Angelo Vattimo3,
  7. Emanuele Miraglia del Giudice4,
  8. Giuseppe Plazzi1,
  9. Roberto D’Angelo1,
  10. Giovanni Greco5,
  11. Pasquale Montagna1
  1. 1Department of Neurological Sciences, University of Bologna, Bologna, Italy
  2. 2Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Florence, Italy
  3. 3Nuclear Medicine, “Le Scotte”General Hospital of Siena, Siena, Italy
  4. 4Department of Paediatrics, Second University of Naples, Naples, Italy
  5. 5Neurology, Ramazzini Hospital, Carpi (Modena), Italy
  1. Correspondence to:
 Dr Roberto Vetrugno
 Dipartimento di Scienze Neurologiche dell’Università di Bologna, Via Ugo Foscolo 7-40123 Bologna, Italy; vetrugno{at}


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.

  • DI, difference image
  • EMG, electromyography
  • 1H-MRS, proton magnetic resonance spectroscopy
  • PnC, nucleus reticularis pontis caudalis
  • rCBF, regional cerebral blood flow
  • SPECT, single photon emission tomography

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  • Competing interests: None.

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