Skip Navigation LinksHome > May 2014 - Volume 73 - Issue 5 > A Novel GRN Mutation (GRN c.708+6_+9delTGAG) in Frontotempor...
Journal of Neuropathology & Experimental Neurology:
doi: 10.1097/NEN.0000000000000070
Original Articles

A Novel GRN Mutation (GRN c.708+6_+9delTGAG) in Frontotemporal Lobar Degeneration With TDP-43–Positive Inclusions: Clinicopathologic Report of 6 Cases

Bit-Ivan, Esther N. DO; Suh, Eunran PhD; Shim, Hyung-Sub MD; Weintraub, Sandra PhD; Hyman, Bradley T. MD, PhD; Arnold, Steven E. MD; McCarty-Wood, Elisabeth MD, PhD; Van Deerlin, Viviana M. MD, PhD; Schneider, Julie A. MD, MS; Trojanowski, John Q. MD, PhD; Frosch, Matthew P. MD, PhD; Baker, Matt C. BSc; Rademakers, Rosa PhD; Mesulam, Marsel MD; Bigio, Eileen H. MD

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Abstract

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 these discoveries. Mutations in one of these genes (GRN), which encodes progranulin, have been implicated in up to a quarter of cases of frontotemporal lobar degeneration with TDP-43 (TAR DNA-binding protein 43)–positive inclusions; currently, there are more than 60 known pathogenic mutations of the gene. We present the clinical, pathologic, and genetic findings on 6 cases from 4 families, 5 of which were shown to have a novel GRN c.708+6_+9delTGAG mutation.

Copyright © 2014 by the American Association of Neuropathologists, Inc.

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