Movement disorders: Edited by Yves AgidPathophysiology of dystoniaVidailhet, Marie; Grabli, David; Roze, EmmanuelAuthor Information Fédération de Neurologie, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Université Pierre et Marie Curie-Paris6, INSERM, UMRS 975, CNRS UMR 7225, Paris, F-75013, France Correspondence to Marie Vidailhet, Federation of Neurology and UMRS 975, Salpêtrière Hospital, Boulevard de l'Hôpital, 75013 Paris, France Tel: + 33 1 42 16 24 90; fax: + 33 1 42 16 24 74; e-mail: [email protected] Current Opinion in Neurology: August 2009 - Volume 22 - Issue 4 - p 406-413 doi: 10.1097/WCO.0b013e32832d9ef3 Buy Metrics Abstract Purpose of review In the past 18 months, several important studies in neuroimaging, epidemiology of dystonia and animal models have been published. Moreover, new advances in genetics have broadened the spectrum of dystonia. Here, we discuss these findings and their implication in the pathophysiology of dystonia. Recent findings From neurophysiological studies and animal models, converging arguments support the role of combined corticostriatal, cerebellar and dopaminergic dysfunctions in the pathophysiology of dystonia. A large study in epidemiology identified several risk factors associated with writer's cramp (time spent handwriting each day and the additional burden of an abrupt increase in the writing time in the year before onset). Important studies on the abnormal structure–function relationship in hereditary and sporadic dystonia explored the relationship between genotype, phenotype and endophenotype. Summary Different pathophysiological mechanisms may underlie similar phenotypes whereas different genotypes may share similar functional abnormalities. The respective roles of corticostriatal–cortical and cerebellar loops remain to be clarified as the original causative process (either degenerative or developmental) is accompanied by functional reorganization. © 2009 Lippincott Williams & Wilkins, Inc.