title: What's new in dystonia?
abstract: Several advances have been made in dystonia in both the basic science and clinical realms. Recent research has implicated dysfunctional circuitry outside of the basal ganglia, thereby broadening our understanding of the pathophysiology of dystonia. Genetic achievements include the discovery of a genetic modifier that protects against clinical expression in DYT1 and the identification of the DYT6 gene (THAP1). Several reports provided expanded descriptions of the clinical features of dystonia and its associated symptoms. Follow-up studies of deep brain stimulation, typically targeting the globus pallidus internus, have been largely positive. The success of deep brain stimulation in many cases of generalized dystonia has led to trials in other forms of dystonia, such as medically refractive cervical dystonia. This article reviews relevant recent findings in dystonia.
authors.affiliation: Beth Israel Medical Center, Albert Einstein College of Medicine, New York, NY 10003, USA. vshanker@chpnet.org
authors.forename: Vicki
authors.initials: V
authors.lastname: Shanker
authors.forename: Susan B
authors.initials: SB
authors.lastname: Bressman
mesh_terms: D017668:Age of Onset; D018726:Anti-Dyskinesia Agents / Q000627:therapeutic use; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D001905:Botulinum Toxins / Q000627:therapeutic use; D004268:DNA-Binding Proteins / Q000235:genetics; D046690:Deep Brain Stimulation; D003937:Diagnosis, Differential; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D018832:Molecular Chaperones / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D018726:Anti-Dyskinesia Agents; D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D018832:Molecular Chaperones; D009687:Nuclear Proteins; C474080:THAP1 protein, human; C108175:TOR1A protein, human; D001905:Botulinum Toxins