RÉSUMÉ
Paroxysmal kinesigenic dyskinesia (PKD) are movement disorders triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. We report three patients presenting PKD with different TMEM151A mutations, two of which have not been described yet.
Sujet(s)
Dystonie , Protéines membranaires , Humains , Protéines membranaires/génétique , Protéines de tissu nerveux/génétique , Mutation , Dystonie/génétiqueRÉSUMÉ
In recent decades, numerous studies have found that smoking or the intake of any form of nicotine, such as smokeless tobacco, exposure to environmental tobacco smoke, or even dietary sources such as peppers, reduces the risk of developing Parkinson's disease.1 Such observations suggest a potential disease-modifying effect of nicotine in Parkinson's disease. Many experimental studies, some of them supported by grants from the tobacco industry, have lent support for such a hypothesis.