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Physiological abnormalities in hereditary hyperekplexia.

J Matsumoto1, P Fuhr, M Nigro

  • 1Human Motor Control Section, Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.

Annals of Neurology
|July 1, 1992
PubMed
Summary
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Hereditary hyperekplexia involves an overactive acoustic startle reflex. Physiological testing revealed increased reflex gain, suggesting brainstem and spinal cord withdrawal reflex abnormalities.

Area of Science:

  • Neuroscience
  • Genetics
  • Physiology

Background:

  • Hereditary hyperekplexia is a rare neurological disorder.
  • Characterized by exaggerated startle responses and muscle stiffness.
  • Previous research has not fully elucidated the underlying physiological mechanisms.

Purpose of the Study:

  • To investigate the physiological basis of hereditary hyperekplexia.
  • To characterize the nature of muscle jerks in affected individuals.
  • To identify the specific reflex pathways involved.

Main Methods:

  • Physiological testing on five patients from a kindred with hereditary hyperekplexia.
  • Electromyography to record muscle activity.
  • Graded acoustic and somatosensory stimuli.

Related Experiment Videos

  • Electrical nerve stimulation.

    • Main Results:

    • Audiogenic muscle jerks mirrored normal acoustic startle reflex patterns.
    • Increased gain of the acoustic startle reflex was observed.
    • Nose-tap stimuli evoked generalized muscle jerks similar to blink reflex R1.
    • Peripheral nerve stimulation produced generalized muscle jerks akin to the acoustic startle reflex.
    • Evoked potential tests (somatosensory, brainstem auditory, cortical auditory) were normal.

    Conclusions:

    • The primary abnormality in hereditary hyperekplexia is elevated gain in vestigial withdrawal reflexes.
    • These reflexes are located in the brainstem and spinal cord.
    • Increased reticular neuron excitability is the likely cause.