During prior funding cycles, the Dystonia Coalition successfully developed a multicenter shared biorepository for DNA specimens, in collaboration with the NINDS Human Genetic Resource at Coriell. Our recruiting centers contributed DNA specimens from more than 3,000 patients with different types of dystonia, along with detailed information on the clinical phenotype. The Dystonia Coalition has distributed more than 2,500 samples and Coriell has distributed more than 500 samples to other investigators. More than half of the Dystonia Coalition DNA samples come from CD since that is the most common type of isolated dystonia. The goals of this project are to 1) extend the value of the current DNA repository by targeting less well represented subtypes of the isolated dystonias: LD, BSP and limb dystonia, as well as targeting multiplex families including informative non-affected family members; 2) develop a centralized repository of additional blood-based materials for future epigenetic, transcriptomic, proteomics, lipidomics, and metabolomics studies, 3) begin exploratory studies to identify novel genetic and proteomic factors that characterize dystonia in general or distinguish specific dystonia types, and 4) begin exploratory studies to identify genetic and proteomic factors that influence spread of dystonia. We anticipate that collection of these material and data will facilitate clinical and basic science studies of the pathogenesis of dystonia. An inherent strength of this application is the use of standard and uniform protocols across all samples across multiple sites, reducing or eliminating the variability present in many multisite studies.
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| Cotton, Adam C; Bell, R B; Jinnah, H A (2018) Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example. JIMD Rep 41:25-27 |
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| Liu, Hui; Jin, Hongjun; Luo, Zonghua et al. (2018) In Vivo Characterization of Two 18F-Labeled PDE10A PET Radioligands in Nonhuman Primate Brains. ACS Chem Neurosci 9:1066-1073 |
| Scorr, Laura M; Silver, Michael R; Hanfelt, John et al. (2018) Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. Neurotherapeutics 15:452-458 |
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| Shaikh, Aasef G; Factor, Stewart A; Juncos, Jorge (2017) Saccades in progressive supranuclear palsy - maladapted, irregular, curved, and slow. Mov Disord Clin Pract 4:671-681 |
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