Article
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
Brain : a journal of neurology - 1 Nov 2006
Mackenzie Ian R A, Baker Matt, Pickering-Brown Stuart, Hsiung Ging-Yuek R, Lindholm Caroline, Dwosh Emily, Gass Jennifer, Cannon Ashley, Rademakers Rosa, Hutton Mike, Feldman Howard H
Abstract excerpt
The most common pathology in frontotemporal dementia (FTD) is tau-negative, ubiquitin-immunoreactive (ub-ir) neuronal inclusions (FTLD-U). Recently, we identified mutations in the progranulin (PGRN) gene as the cause of autosomal dominant FTLD-U linked to chromosome 17. Here, we describe the neuropathology in 13 patients from 6 different families, each with FTD caused by a different PGRN mutation. The most...
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