C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
Beatrice CostaClaudia ManzoniManuel Bernal-QuirosDemis A KiaMiquel AguilarIgnacio AlvarezVictoria AlvarezOle Andreas AndreassenMaria AnfossiSilvia BagnoliLuisa BenussiLivia BernardiGiuliano BinettiDaniel BlackburnMercè BoadaBarbara BorroniLucy BownsGeir BråthenAmalia C BruniHuei-Hsin ChiangJordi ClarimonShuna ColvilleMaria E ConidiTom E CopeCarlos CruchagaChiara CupidiMaria Elena Di BattistaJanine Diehl-SchmidMonica Diez-FairenOriol Dols-IcardoElisabetta DuranteDušan FlisarFrancesca FrangipaneDaniela GalimbertiMaura GalloMaurizio GallucciRoberta GhidoniCaroline GraffJordan H GrafmanMurray GrossmanJohn HardyIsabel HernándezGuy J T HollowayEdward D HueyIgnacio Illán-GalaAnna KarydasBehzad KhoshnoodMilica G KrambergerMark KristiansenPatrick A LewisAlberto LleóGaganjit K MadhanRaffaele MalettaAleš MaverManuel Menendez-GonzalezGraziella MilanBruce MillerMerel O MolParastoo MomeniSonia Moreno-GrauChristopher M MorrisBenedetta NacmiasChrister NilssonValeria NovelliLinn ÖijerstedtAlessandro PadovaniSuvankar PalYasmin PanchbhayaPau PastorBorut PeterlinIrene PiaceriStuart Pickering-BrownYolande A L PijnenburgAnnibale A PucaInnocenzo RaineroAntonella RendinaAnna M T RichardsonEkaterina RogaevaBoris RogeljSara RollinsonGiacomina RossiCarola RossmeierJames B RoweElisa RubinoAgustín RuizRaquel Sanchez-ValleSigrid B SandoAlexander F SantilloJennifer SaxonElio ScarpiniMaria SerpenteNicoletta SmirneSandro SorbiEunRan SuhFabrizio TagliaviniJennifer C ThompsonJohn Q TrojanowskiVivianna M Van DeerlinJulie Van der ZeeChristine Van BroeckhovenJeroen van RooijJohn C Van SwietenArianna VeronesiEmilia VitaleMaria L WaldöCathy WoodwardJennifer YokoyamaValentina Escott-PriceJames M PolkeRaffaele Ferrarinull nullPublished in: Neurology (2020)
Our results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry, and a diagnosis of bvFTD, implying complex genetic risk architectures differently underpinning the behavioral and language variant syndromes.