The effects of clonazepam and vigabatrin in hyperekplexia

J Neurol Sci. 1997 Jul;149(1):63-7. doi: 10.1016/s0022-510x(97)05378-1.

Abstract

Hyperekplexia is an autosomal dominant disorder caused by a point mutation in the alpha1 subunit of the glycine receptor, characterized by excessive startle responses followed by temporary generalized stiffness. Clonazepam, effective in open case studies, potentiates, through unknown mechanisms, the neurotransmitter gamma-aminobutyric acid (GABA). Vigabatrin increases GABA by inhibition of the GABA catabolic enzyme GABA-transaminase. Effects of clonazepam (1 mg for 1 day) and vigabatrin (1000 mg per day for 5 days) were investigated in a double-blind placebo-controlled cross-over study in 4 patients with hyperekplexia. The pharmacodynamic parameters were startle reflexes, studied 3 times during the day. At each time, 2 trains of 10 auditive stimuli (113 dB) were given at intervals of 10 and 60 s. Startle movements were quantified with summed areas of EMG-bursts of the orbicularis oculi, sternocleidomastoid, biceps and thenar muscles. The degrees of stiffness and drowsiness were quantified with visual analogue scores (VAS) 10 times during the day, by both the patient and the observer. Clonazepam, but not vigabatrin, reduced startle activity significantly in both paradigms. The degree of stiffness and drowsiness was not significantly influenced by either drug.

Publication types

  • Clinical Trial
  • Comparative Study
  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acoustic Stimulation
  • Adult
  • Anticonvulsants / adverse effects
  • Anticonvulsants / blood
  • Anticonvulsants / therapeutic use*
  • Clonazepam / adverse effects
  • Clonazepam / blood
  • Clonazepam / therapeutic use*
  • Cross-Over Studies
  • Double-Blind Method
  • Electromyography / drug effects
  • Humans
  • Male
  • Middle Aged
  • Muscle Rigidity / drug therapy*
  • Muscle Rigidity / genetics
  • Placebos
  • Point Mutation
  • Receptors, Glycine / genetics
  • Reflex, Startle* / drug effects
  • Sleep Stages
  • Vigabatrin
  • gamma-Aminobutyric Acid / adverse effects
  • gamma-Aminobutyric Acid / analogs & derivatives*
  • gamma-Aminobutyric Acid / blood
  • gamma-Aminobutyric Acid / therapeutic use

Substances

  • Anticonvulsants
  • Placebos
  • Receptors, Glycine
  • gamma-Aminobutyric Acid
  • Clonazepam
  • Vigabatrin