Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia

Sogorb-Esteve, Aitana; Nilsson, Johanna; Swift, Imogen J; Heller, Carolin; Bocchetta, Martina; Russell, Lucy L; Peakman, Georgia; Convery, Rhian S; van Swieten, John C; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Rohrer, Jonathan D; Nacmias, Benedetta

doi:10.1186/s13195-022-01042-3

Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most of the inheritance: C9orf72, GRN, and MAPT. Impaired synaptic health is a common mechanism in all three genetic variants, so developing fluid biomarkers of this process could be useful as a readout of cellular dysfunction within therapeutic trials.

Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia / Sogorb-Esteve, Aitana; Nilsson, Johanna; Swift, Imogen J; Heller, Carolin; Bocchetta, Martina; Russell, Lucy L; Peakman, Georgia; Convery, Rhian S; van Swieten, John C; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Rohrer, Jonathan D; Nacmias,Benedetta. - In: ALZHEIMER'S RESEARCH & THERAPY. - ISSN 1758-9193. - ELETTRONICO. - 14:(2022), pp. 14.118-14.130. [10.1186/s13195-022-01042-3]