Article
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
Brain pathology (Zurich, Switzerland) - 1 Jan 2018
Redaelli Veronica, Rossi Giacomina, Maderna Emanuela, Kovacs Gabor G, Piccoli Elena, Caroppo Paola, Cacciatore Francesca, Spinello Sonia, Grisoli Marina, Sozzi Giuliano, Salmaggi Andrea, Tagliavini Fabrizio, Giaccone Giorgio
Abstract excerpt
Null mutations in progranulin gene (GRN) reduce the progranulin production resulting in haploinsufficiency and are tightly associated with tau-negative frontotemporal lobar degeneration with TAR DNA-binding protein 43-positive inclusions (FTLD-TDP). Missense mutations of GRN were also identified, but their effects are not completely clear, in particular unanswered is the question of what neuropathology they...
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