Core B Clinical Core

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ABSTRACT This proposal is for core support for the projects of this grant application directed towards elucidation of the molecular etiology and pathophysiology of early onset dystonia and for the continued expansion of this clinical core as an international resource for dystonia-related investigations. Centralized core services are critical to the stability and functioning of each of the specific projects and indispensable to the coordinated and efficient attainment of the overall project goals. The functions of this core include patient ascertainment, recruitment, enrollment and phenotypic characterization; human tissue collection, cell line / DNA / fibroblast for induced pluripotent stem cell line (iPS) establishment and genotype analysis (in Project 1); and database maintenance and expansion. The core provides samples and clinical information to Projects 1 and 2. Furthermore, to ensure that these resources are most readily available to colleagues across the nation, we will continue to contribute samples and de-identified clinical information to the NINDS Repository at Coriell.