Article
Novel progranulin mutation detected in 2 patients with FTLD.
Alzheimer disease and associated disorders - 1 Jan 2000
Skoglund Lena, Matsui Toshifumi, Freeman Stefanie H, Wallin Anders, Blom Elin S, Frosch Matthew P, Growdon John H, Hyman Bradley T, Lannfelt Lars, Ingelsson Martin, Glaser Anna
Abstract excerpt
Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions, and linkage to chromosome 17 was recently found to be caused by mutations in the progranulin (PGRN) gene. In this study, we screened a group of 51 FTLD patients for PGRN mutations and identified a novel exon 6 splice donor site deletion (IVS6+5_8delGTGA) in 2 unrelated patients. This mutation displayed an altered splicing...
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