Article
Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia.
Experimental neurology - 1 Sept 2015
Vanni Valentina, Puglisi Francesca, Bonsi Paola, Ponterio Giulia, Maltese Marta, Pisani Antonio, Mandolesi Georgia
Abstract excerpt
Early-onset torsion dystonia (DYT1) is an autosomal-dominant movement disorder characterized by sustained muscle contractions and abnormal posturing. It is caused by a three base-pair deletion (ΔGAG) in the gene encoding the AAA(+) protein torsinA, which gives rise to a loss of function mutation responsible of neuronal functional abnormalities. Symptoms typically appear during childhood, suggesting the presence...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.