The inherited dystonias.
During the last decade, we have witnessed significant advances in the study of inherited dystonias. This article will review some of those discoveries and summarize their significance for the practicing neurologist. A clinical classification of dystonia based on features that can be determined by the clinician is proposed, aiming to facilitate the evaluation of patients with suspected inherited dystonia. Subsequently, DYT1 dystonia is used as an example of how genetics can aid in the evaluation of patients presenting with this group of heritable diseases. Finally, a brief summary of the most significant recent advances in this field will focus on those aspects most helpful to the clinician.
Gonzalez-Alegre
Pedro
P
Department of Neurology, Carver College of Medicine at The University of Iowa, Iowa City 52242, USA.
D004421:Dystonia / Q000145:classification* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics; D009154:Mutation
D018832:Molecular Chaperones; C108175:TOR1A protein, human