Saccadic eye movements in hyperekplexia

M A Tijssen, E Bollen, E van Exel, J G van Dijk

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12 Citations (Scopus)


Hyperekplexia is an autosomal dominant disorder characterized by excessive startle responses followed by a temporary generalized stiffness. The startle response is generated in the medial bulbopontine reticular formation in the lower brainstem. The pulse generator of horizontal saccadic eye movements is localized in the pontine paramedian reticular formation. Measurements of horizontal visually evoked random saccades, antisaccades, and saccades toward remembered targets were performed in seven patients with familial hyperekplexia and seven health age-matched controls. The peak velocity of all three kinds of saccades was reduced (p < 0.0001) compared with that of controls. Latencies were marginally longer in the patient group (p = 0.0486). Saccadic gains did not differ between patients and controls. The ability to make antisaccades, saccades toward remembered targets, and the ability to suppress reflex saccades are similar in patients and controls. These data suggest that the origin of the excessive startle response is probably more due to a different modulation in the brainstem than to altered cortical influence.

Original languageEnglish
Pages (from-to)749-53
Number of pages5
JournalMovement disorders
Issue number6
Publication statusPublished - Nov 1995


  • Acoustic Stimulation
  • Adult
  • Brain Stem/physiopathology
  • Chromosome Aberrations/genetics
  • Chromosome Disorders
  • Female
  • Genes, Dominant/genetics
  • Habituation, Psychophysiologic/physiology
  • Humans
  • Male
  • Mental Recall/physiology
  • Middle Aged
  • Muscle Hypertonia/genetics
  • Muscle Rigidity/genetics
  • Reaction Time/physiology
  • Reference Values
  • Reflex, Abnormal/physiology
  • Reflex, Startle/genetics
  • Saccades/genetics

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