Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
Chen Z, Chen JA, Shatunov A et al.
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Progressive supranuclear palsy is a neurodegenerative tauopathy manifesting clinically as a progressive akinetic-rigid syndrome. In this study, we sought to identify genetic variants influencing PSP susceptibility through a genome-wide association analysis of a cohort of well-characterized patients who had participated in the Neuroprotection and Natural History in Parkinson Plus Syndromes and Blood Brain Barrier in Parkinson Plus Syndromes studies.
283 European ancestry cases, 4,472 European ancestry controls
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