Alzheimers Res Ther
Published

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

Authors

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

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.

PMID:36045450 | DOI:10.1186/s13195-022-01042-3

UK DRI Authors

Aitana Sogorb-Esteve profile

Dr Aitana Sogorb-Esteve

Emerging Leader

Identifying biomarkers to assess synaptic dysfunction in Frontotemporal dementia

Dr Aitana Sogorb-Esteve
Profile picture of Henrik Zetterberg

Prof Henrik Zetterberg

Group Leader

Pioneering the development of fluid biomarkers for dementia

Prof Henrik Zetterberg
Paul Matthews

Prof Paul Matthews

Group Leader

Exploring neuronal vulnerability and genetic risk variants in Alzheimer’s progression

Prof Paul Matthews