Article
A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases.
Journal of neuropathology and experimental neurology - 1 May 2014
Bit-Ivan Esther N, Suh Eunran, Shim Hyung-Sub, Weintraub Sandra, Hyman Bradley T, Arnold Steven E, McCarty-Wood Elisabeth, Van Deerlin Viviana M, Schneider Julie A, Trojanowski John Q, Frosch Matthew P, Baker Matt C, Rademakers Rosa, Mesulam Marsel, Bigio Eileen H
Abstract excerpt
Understanding of frontotemporal lobar degeneration, the underlying pathology most often linked to the clinical diagnosis of frontotemporal dementia, is rapidly increasing. Mutations in 7 known genes (MAPT, GRN, C9orf72, VCP, CHMP2B, and, rarely, TARDBP and FUS) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect...
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