Abstracts

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) has been linked to mutations in nicotinic acetylcholine receptors (nAChR) in many families. A beneficial effect of transdermal nicotine has been reported in one single case. We aimed to investigate the influence of tobacco habits on seizure activity in two families with ADNFLE., Interviews focusing on the pattern of nicotine intake and seizure activity were performed in 22 adult mutation carriers belonging to two ADNFLE pedigrees with different mutations in the gene coding for the nAChR [alpha]4 subunit., Ten of 14 tobacco consumers were seizure free, whereas all seven non-smokers with manifest ADNFLE had persistent seizures. In several patients, remissions and fluctuations of epileptic symptoms clearly appeared to correspond to changes in tobacco habits. Furthermore, one pharmacoresistant patient who had recently begun treatment with transdermal nicotine had experienced improvement., Tobacco appears to be an environmental factor which influences the course of ADNFLE. An inactivation of the mutant nAChRs by desensitization during chronic nicotine exposure may explain the beneficial effect. In pharmacoresistant patients with ADNFLE, treatment with transdermal nicotine should be considered, weighing efficacy against potential long-term harmful effects. Prospective studies are needed., (Supported by Swiss National Foundation n[deg] 3100A0-104190/1 (Fabienne Picard).)