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

Genetic correlation analysis identifies TMEM106B, ACE, and ERC2 as genetic loci shared between Alzheimer's disease and primary psychiatric disorders

Ajneesh Kumar, Nicholas R. Ray, Jiji Thulaseedhara Kurup, Pamela del Rosario, Masood Manoochehri, Colin M. Stein, Alyssa N. De Vito, Brenna Cholerton, Robert A. Sweet, Philip L. De Jager, Hans‐Ulrich Klein, Michael L. Cuccaro, Gary W. Beecham, Edward D. Huey, Christiane Reitz

Alzheimer s & Dementia · Mar 1, 2026Peer-reviewedGenetic & Genomic Medicine

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

Increasing hub disruption parallels dementia severity in autosomal dominant Alzheimer disease

Jiaxin Cindy Tu, Peter R Millar, Jeremy F. Strain, Andrew Eck, Babatunde Adeyemo, Alisha Daniels, Celeste M M. Karch, Edward D. Huey, Eric McDade, Gregory Scott Day, Yakushev Igor, Jason Hassenstab, John C. Morris, Jorge J. Llibre‐Guerra, Laura Ibáñez, , The Dominantly Inherited Alzheimer Network (DIAN)

This study shows hub disruption in ADAD follows a targeted attack pattern, detectable pre-clinically and linked to amyloid beta changes and neuronal activity.

Network Neuroscience · Jan 1, 2024Peer-reviewedNeuroscience

CXCR4 involvement in neurodegenerative diseases

Luke W. Bonham, Celeste M M. Karch, Chun Chieh Fan, Chin Hong Tan, Ethan G. Geier, Yunpeng Wang, Natalie Wen, Iris Broce, Yi Li, Matthew J. Barkovich, Raffaele Ferrari, John Hardy, Parastoo Momeni, Günter U. Höglinger, Ulrich Müller, , Murray Grossman

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

Translational Psychiatry · Apr 11, 2018Peer-reviewedGenetics