The paper identifies the CSF YWHAG:NPTX2 ratio as a biomarker for predicting clinical severity and phenoconversion in FTLD, showing strong correlation with disease progression and improved trial design potential.

bioRxiv · Aug 31, 2026 · PreprintNeuroscience

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

Cyril P. Pottier, Fahri Küçükali, Matt C. Baker, Anthony J. Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina T. Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa Erin Murray, Júlia Faura, Stephen J. Haggarty, Jeroen van Rooij, , Edward B. Lee

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Nature Communications · Apr 25, 2025Peer-reviewedGenetic & Genomic Medicine

Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia

Molly Memel, Adam M. Staffaroni, Ignacio Illán‐Gala, Jesús García Castro, John Kornak, Maria Carmela Tartaglia, Rowan Saloner, Anna M. VandeBunte, Emily W. Paolillo, Claire J. Cadwallader, Coty Chen, Maria Luisa Gorno‐Tempini, Malu Mandelli, Liana G. Apostolova, Neill R. Graff‐Radford, , Kaitlin Blackstone Casaletto

This study examines sex differences in clinical progression of autosomal dominant frontotemporal dementia, finding females show more rapid declines in symptomatic stages and less sensitive NfL prognostic value.

Alzheimer s & Dementia · Apr 1, 2025Peer-reviewedNeuroscience