{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:47:13Z","timestamp":1759970833068,"version":"build-2065373602"},"reference-count":64,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T00:00:00Z","timestamp":1685923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alzheimer's &amp;amp; Dementia"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>INTRODUCTION<\/jats:title><jats:p>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)\u2010based markers of SVD in patients with neurodegenerative diseases as a function of rare genetic variant carrier status.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>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\u2010synonymous variants in five genes (<jats:italic>ABCC6, COL4A1\/COL4A2, NOTCH3\/HTRA1<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p><jats:italic>NOTCH3\/HTRA1<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>DISCUSSION<\/jats:title><jats:p>Further studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/alz.13316","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T17:50:36Z","timestamp":1686160236000},"page":"5583-5595","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Rare neurovascular genetic and imaging markers across neurodegenerative diseases"],"prefix":"10.1002","volume":"19","author":[{"given":"Allison A.","family":"Dilliott","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie A.","family":"Berberian","sequence":"additional","affiliation":[{"name":"Dr. Sandra Black Centre for Brain Resilience and Recovery LC Campbell Cognitive Neurology Hurvitz Brain Sciences Program Sunnybrook Research Institute University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly M.","family":"Sunderland","sequence":"additional","affiliation":[{"name":"Rotman Research Institute Baycrest Health Sciences  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malcolm A.","family":"Binns","sequence":"additional","affiliation":[{"name":"Rotman Research Institute Baycrest Health Sciences  Toronto Ontario Canada"},{"name":"Division of Biostatistics, Dalla Lana School of Public Health University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Zimmer","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Institute and Hospital McGill University  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miracle","family":"Ozzoude","sequence":"additional","affiliation":[{"name":"Dr. Sandra Black Centre for Brain Resilience and Recovery LC Campbell Cognitive Neurology Hurvitz Brain Sciences Program Sunnybrook Research Institute University of Toronto  Toronto Ontario Canada"},{"name":"Tanz Centre for Research in Neurodegenerative Diseases University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher J. 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