Rare neurovascular genetic and imaging markers across neurodegenerative diseases

ONDRI Investigators, Allison A Dilliott*, Stephanie A Berberian, Kelly M Sunderland, Malcolm A Binns, Julia Zimmer, Miracle Ozzoude, Christopher J M Scott, Fuqiang Gao, Anthony E Lang, David P Breen, Maria C Tartaglia, Brian Tan, Richard H Swartz, Ekaterina Rogaeva, Michael Borrie, Elizabeth Finger, Corinne E Fischer, Andrew Frank, Morris FreedmanSanjeev Kumar, Stephen Pasternak, Bruce G Pollock, Tarek K Rajji, David F Tang-Wai, Agessandro Abrahao, John Turnbull, Lorne Zinman, Leanne Casaubon, Dar Dowlatshahi, Ayman Hassan, Jennifer Mandzia, Demetrios Sahlas, Gustavo Saposnik, David Grimes, Connie Marras, Thomas Steeves, Mario Masellis, Sali M K Farhan, Robert Bartha, Sean Symons, Robert A Hegele, Sandra E Black, Joel Ramirez

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

INTRODUCTION: Cerebral small vessel disease (SVD) is common in patients with cognitive impairment and neurodegenerative diseases such as Alzheimer's and Parkinson's. This study investigated the burden of magnetic resonance imaging (MRI)-based markers of SVD in patients with neurodegenerative diseases as a function of rare genetic variant carrier status.

METHODS: The Ontario Neurodegenerative Disease Research Initiative study included 520 participants, recruited from 14 tertiary care centers, diagnosed with various neurodegenerative diseases and determined the carrier status of rare non-synonymous variants in five genes (ABCC6, COL4A1/COL4A2, NOTCH3/HTRA1).

RESULTS: NOTCH3/HTRA1 were found to significantly influence SVD neuroimaging outcomes; however, the mechanisms by which these variants contribute to disease progression or worsen clinical correlates are not yet understood.

DISCUSSION: Further studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases.

Original languageEnglish
JournalAlzheimer's & Dementia: The Journal of the Alzheimer's Association
Early online date5 Jun 2023
Publication statusE-pub ahead of print - 5 Jun 2023


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