Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia.

The new cases confirm the intrafamilial phenotypic heterogeneity of DYT1-dystonia. Moreover, this case series highlights that symptoms in atypical phenotypes seem not to spread significantly and in the long term, rarely worsen. Prolonged follow-up of DYT1-positive pedigrees may expand the clinical spectrum of DYT1-dystonia.