Article
Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine.
Brain : a journal of neurology - 1 Sept 2009
Martella Giuseppina, Tassone Annalisa, Sciamanna Giuseppe, Platania Paola, Cuomo Dario, Viscomi Maria Teresa, Bonsi Paola, Cacci Emanuele, Biagioni Stefano, Usiello Alessandro, Bernardi Giorgio, Sharma Nutan, Standaert David G, Pisani Antonio
Abstract excerpt
DYT1 dystonia is a severe form of inherited dystonia, characterized by involuntary twisting movements and abnormal postures. It is linked to a deletion in the dyt1 gene, resulting in a mutated form of the protein torsinA. The penetrance for dystonia is incomplete, but both clinically affected and non-manifesting carriers of the DYT1 mutation exhibit impaired motor learning and evidence of altered motor...
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