Article
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Journal of Alzheimer's disease : JAD - 4 May 2016
Galimberti Daniela, Bertram Kelly, Formica Alessandra, Fenoglio Chiara, Cioffi Sara M G, Arighi Andrea, Scarpini Elio, Colosimo Carlo
Abstract excerpt
Progranulin gene (GRN) mutations are characterized by heterogeneous presentations. Corticobasal syndrome (CBS) is often associated with GRN mutations, whereas association with progressive supranuclear palsy syndrome (PSPS) is rare. Plasma progranulin levels were evaluated in 34 patients, including 19 with PSPS, 12 with CBS, and 3 with mixed signs, with the purpose to screen for the presence of causal mutations,...
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