A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache

摘要

Background: The mechanisms subtending migrainous features, like sensoriphobia, remain poorly understood even though recent works have shed new light on their mechanisms. Case report: A 24-year-old woman consulted the headache clinic because of frequent paroxysmal attacks of strong sensoriphobia, digestive signs, moderate ataxia and a need to lie in the dark, without any headache. The symptoms had begun in infancy and the patient had been treated for hysteria, then for epilepsy. As she had some typical features of episodic ataxia type 2, an analysis of CACNA1A gene was performed and demonstrated a novel c3995+1G≤A mutation. The same mutation was also discovered in her young son, who had an ataxia of unknown origin. Both remarkably improved under acetazolamide. Conclusions: This observation suggests that paroxysmal sensoriphobia and digestive signs can occur together in bouts in neurological conditions other than migraine, and in the absence of head pain. It raises interesting hypotheses about the central pathways driving these symptoms.