TY - JOUR
T1 - A novel GRN mutation (GRN c.708+6-+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions
T2 - Clinicopathologic report of 6 cases
AU - Bit-Ivan, Esther N.
AU - Suh, Eunran
AU - Shim, Hyung Sub
AU - Weintraub, Sandra
AU - Hyman, Bradley T.
AU - Arnold, Steven E.
AU - McCarty-Wood, Elisabeth
AU - Van Deerlin, Viviana M.
AU - Schneider, Julie A.
AU - Trojanowski, John Q.
AU - Frosch, Matthew P.
AU - Baker, Matt C.
AU - Rademakers, Rosa
AU - Mesulam, Marsel
AU - Bigio, Eileen H.
PY - 2014/5
Y1 - 2014/5
N2 - 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.
AB - 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.
KW - Dementia
KW - FTLD-TDP
KW - Familial FTD
KW - GRN
KW - Mutation
KW - Progranulin
UR - http://www.scopus.com/inward/record.url?scp=84899585822&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84899585822&partnerID=8YFLogxK
U2 - 10.1097/NEN.0000000000000070
DO - 10.1097/NEN.0000000000000070
M3 - Article
C2 - 24709683
AN - SCOPUS:84899585822
SN - 0022-3069
VL - 73
SP - 467
EP - 473
JO - Journal of Neuropathology and Experimental Neurology
JF - Journal of Neuropathology and Experimental Neurology
IS - 5
ER -