Article
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2006
Gambarin Mattia, Valente Enza Maria, Liberini Paolo, Barrano Giuseppe, Bonizzato Alberto, Padovani Alessandro, Moretto Giuseppe, Fiorio Mirta, Dallapiccola Bruno, Smania Nicola, Fiaschi Antonio, Tinazzi Michele
Abstract excerpt
The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.