title: A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache.
abstract: BACKGROUND
  The mechanisms subtending migrainous features, like sensoriphobia, remain poorly understood even though recent works have shed new light on their mechanisms.
  
  
  METHODS
  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.
authors.affiliation: Headache Clinic and Research Unit, University Department of Neurology, CHR Citadelle, Belgium. dmagis@chu.ulg.ac.be
authors.forename: Delphine
authors.initials: D
authors.lastname: Magis
authors.forename: Elles
authors.initials: E
authors.lastname: Boon
authors.forename: Gianluca
authors.initials: G
authors.lastname: Coppola
authors.forename: Aurore
authors.initials: A
authors.lastname: Daron
authors.forename: Jean
authors.initials: J
authors.lastname: Schoenen
mesh_terms: D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006261:Headache; D006801:Humans; D006930:Hyperalgesia / Q000175:diagnosis* / Q000235:genetics*; D008881:Migraine Disorders / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D055815:Young Adult; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type