Article
Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration.
Neurology - 13 Sept 2022
Tipton Philip Wade, Deutschlaender Angela B, Savica Rodolfo, Heckman Michael G, Brushaber Danielle E, Dickerson Bradford C, Gavrilova Ralitza H, Geschwind Daniel H, Ghoshal Nupur, Graff-Radford Jonathan, Graff-Radford Neill R, Grossman Murray, Hsiung Ging-Yuek R, Huey Edward D, Irwin David John, Jones David T, Knopman David S, McGinnis Scott M, Rademakers Rosa, Ramos Eliana Marisa, Forsberg Leah K, Heuer Hilary W, Onyike Chiadi, Tartaglia Carmela, Domoto-Reilly Kimiko, Roberson Erik D, Mendez Mario F, Litvan Irene, Appleby Brian S, Grant Ian, Kaufer Daniel, Boxer Adam L, Rosen Howard J, Boeve Brad F, Wszolek Zbigniew K
Abstract excerpt
BACKGROUND AND OBJECTIVES: Familial frontotemporal lobar degeneration (f-FTLD) is a phenotypically heterogeneous spectrum of neurodegenerative disorders most often caused by variants within chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), or granulin (GRN). The phenotypic association with each of these genes is incompletely understood. We hypothesized that the frequency of...
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