Article
Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
Acta neuropathologica communications - 28 Apr 2023
Davis Skylar E, Cook Anna K, Hall Justin A, Voskobiynyk Yuliya, Carullo Nancy V, Boyle Nicholas R, Hakim Ahmad R, Anderson Kristian M, Hobdy Kierra P, Pugh Derian A, Murchison Charles F, McMeekin Laura J, Simmons Micah, Margolies Katherine A, Cowell Rita M, Nana Alissa L, Spina Salvatore, Grinberg Lea T, Miller Bruce L, Seeley William W, Arrant Andrew E
Abstract excerpt
Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) develop frontotemporal lobar degeneration with TDP-43 pathology type A (FTLD-TDP type A) and exhibit elevated levels of lysosomal proteins and storage material in frontal cortex, perhaps indicating lysosomal dysfunction as a mechanism of disease. To...
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