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