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Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases
- 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;
- consortium, on behalf of the ARTFL LEFFTDS;
- Coppola, Giovanni
- et al.
Published Web Location
https://www.ncbi.nlm.nih.gov/pubmed/?term=%3DGenetic+screening+of+a+large+series+of+North+American+sporadic+and+familial+frontotemporal+dementia+casesNo data is associated with this publication.
Abstract
Introduction
The Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes.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.Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.