Article
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Science translational medicine - 12 Apr 2017
Ward Michael E, Chen Robert, Huang Hsin-Yi, Ludwig Connor, Telpoukhovskaia Maria, Taubes Ali, Boudin Helene, Minami Sakura S, Reichert Meredith, Albrecht Philipp, Gelfand Jeffrey M, Cruz-Herranz Andres, Cordano Christian, Alavi Marcel V, Leslie Shannon, Seeley William W, Miller Bruce L, Bigio Eileen, Mesulam Marek-Marsel, Bogyo Matthew S, Mackenzie Ian R, Staropoli John F, Cotman Susan L, Huang Eric J, Gan Li, Green Ari J
Abstract excerpt
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults. Homozygous GRN mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease usually seen in children. Given that the predominant clinical and pathological features of FTD...
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