Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
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Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Deverasetty Sandeep, Qin Yue, van Blitterswijk Marka, Jackson Jazmyne, Appleby Brian, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle E, Dickerson Bradford, Dickinson Susan, Domoto-Reilly Kimiko, Faber Kelley, Fields Julie, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek R, Huey Edward, Irwin David, Kantarci Kejal, Karydas Anna, Kaufer Daniel, Kerwin Diana, Knopman David, Kornak John, Kramer Joel H, Kremers Walter, Kukull Walter, Litvan Irene, Ljubenkov Peter, Lungu Codrin, Mackenzie Ian, Mendez Mario F, Miller Bruce L, Onyike Chiadi, Pantelyat Alexander, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Shaw Leslie, Syrjanen Jeremy, Tartaglia Maria Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew, Rademakers Rosa, Boeve Brad F, Rosen Howard J, Boxer Adam L, ARTFL/LEFFTDS consortium, Coppola Giovanni
Аннотация
METHODS: We screened the major dementia-associated genes in 302 sporadic and 390 familial (symptomatic or at-risk) participants enrolled in these studies.
RESULTS: Among the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carriers from 146 families. Of interest, one patient was found to carry a homozygous C9orf72 expansion, while another carried both a C9orf72 expansion and a GRN pathogenic variant. We also identified likely pathogenic variants in the TAR DNA binding protein (TARDBP), presenilin 1 (PSEN1), and valosin containing protein (VCP) genes, and a subset of variants of unknown significance in other rare FTD genes.
DISCUSSION: Our study reports the genetic characterization of a large FTD series and supports an unbiased sequencing screen, irrespective of clinical presentation or family history.