1. Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
- Author
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Dilliott AA, Berberian SA, Sunderland KM, Binns MA, Zimmer J, Ozzoude M, Scott CJM, Gao F, Lang AE, Breen DP, Tartaglia MC, Tan B, Swartz RH, Rogaeva E, Borrie M, Finger E, Fischer CE, Frank A, Freedman M, Kumar S, Pasternak S, Pollock BG, Rajji TK, Tang-Wai DF, Abrahao A, Turnbull J, Zinman L, Casaubon L, Dowlatshahi D, Hassan A, Mandzia J, Sahlas D, Saposnik G, Grimes D, Marras C, Steeves T, Masellis M, Farhan SMK, Bartha R, Symons S, Hegele RA, Black SE, and Ramirez J
- Subjects
- Humans, Magnetic Resonance Imaging, Neurodegenerative Diseases diagnostic imaging, Neurodegenerative Diseases genetics, Cerebral Small Vessel Diseases pathology, Cognitive Dysfunction
- Abstract
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., (© 2023 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)
- Published
- 2023
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