Rare neurovascular genetic and imaging markers across neurodegenerative diseases-Reference-Cited by-同舟云学术

Rare neurovascular genetic and imaging markers across neurodegenerative diseases

Published:2023-06-05 Issue:12 Volume:19 Page:5583-5595
ISSN:1552-5260
Container-title:Alzheimer's & Dementia
language:en
Short-container-title:Alzheimer's & Dementia

Author:

Dilliott Allison A.¹,Berberian Stephanie A.²,Sunderland Kelly M.³,Binns Malcolm A.³⁴,Zimmer Julia¹,Ozzoude Miracle²⁵,Scott Christopher J. M.²,Gao Fuqiang²,Lang Anthony E.⁶,Breen David P.⁷,Tartaglia Maria C.⁶⁸,Tan Brian³,Swartz Richard H.²⁹¹⁰,Rogaeva Ekaterina⁵,Borrie Michael¹¹¹²,Finger Elizabeth¹¹,Fischer Corinne E.¹³,Frank Andrew¹⁴¹⁵,Freedman Morris³¹⁶,Kumar Sanjeev¹⁷¹⁸,Pasternak Stephen¹⁹,Pollock Bruce G.¹⁷¹⁸,Rajji Tarek K.¹⁷¹⁸²⁰,Tang‐Wai David F.⁹,Abrahao Agessandro⁹,Turnbull John²¹,Zinman Lorne⁹,Casaubon Leanne⁹,Dowlatshahi Dar¹⁴,Hassan Ayman²²,Mandzia Jennifer¹¹,Sahlas Demetrios²¹,Saposnik Gustavo²³²⁴,Grimes David¹⁴,Marras Connie⁶,Steeves Thomas²⁴,Masellis Mario²⁹,Farhan Sali M. K.¹,Bartha Robert¹⁹,Symons Sean²⁵,Hegele Robert A.¹⁹,Black Sandra E.²³⁹¹⁰,Ramirez Joel²^ORCID,

Affiliation:

1. Department of Neurology and Neurosurgery Montreal Neurological Institute and Hospital McGill University Montréal Quebec Canada

2. 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

3. Rotman Research Institute Baycrest Health Sciences Toronto Ontario Canada

4. Division of Biostatistics, Dalla Lana School of Public Health University of Toronto Toronto Ontario Canada

5. Tanz Centre for Research in Neurodegenerative Diseases University of Toronto Toronto Ontario Canada

6. Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital Toronto Ontario Canada

7. Centre for Clinical Brain Sciences University of Edinburgh; Anne Rowling Regenerative Neurology Clinic University of Edinburgh; Usher Institute of Population Health Sciences and Informatics University of Edinburgh Edinburgh UK

8. Division of Neurology Toronto Western Hospital University Health Network Toronto Ontario Canada

9. Department of Medicine (Neurology) Sunnybrook Health Sciences and University of Toronto Ontario Canada

10. Heart and Stroke Foundation Canadian Partnership for Stroke Recovery Hurvitz Brain Sciences Research Program Sunnybrook Research Institute Toronto Ontario Canada

11. Schulich School of Medicine and Dentistry Western University London Ontario Canada

12. St. Joseph's Healthcare Centre London Ontario Canada

13. Keenan Research Centre for Biomedical Science St. Michael's Hospital Toronto Ontario Canada

14. Department of Medicine (Neurology) University of Ottawa Brain and Mind Research Institute and Ottawa Hospital Research Institute Ottawa Ontario Canada

15. Bruyère Research Institute Ottawa Ontario Canada

16. Department of Medicine (Neurology) Baycrest Health Sciences Mt. Sinai Hospital University of Toronto Toronto Ontario Canada

17. Department of Psychiatry University of Toronto Toronto Ontario Canada

18. Adult Neurodevelopment and Geriatric Psychiatry Centre for Addiction and Mental Health Toronto Ontario Canada

19. Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario Canada

20. Toronto Dementia Research Alliance University of Toronto Toronto Ontario Canada

21. Division of Neurology Department of Medicine Hamilton Health Sciences McMaster University Hamilton Canada

22. Thunder Bay Regional Health Research Institute Thunder Bay Ontario Canada

23. Li Ka Shing Knowledge Institute St. Michael's Hospital University of Toronto Toronto Ontario Canada

24. Division of Neurology Department of Medicine St. Michael's Hospital University of Toronto Toronto Ontario Canada

25. Department of Medical Imaging Sunnybrook Health Sciences Centre University of Toronto Toronto Ontario Canada

Abstract

AbstractINTRODUCTIONCerebral 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.METHODSThe 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).RESULTSNOTCH3/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.DISCUSSIONFurther studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases.

Publisher

Wiley

Subject

Psychiatry and Mental health,Cellular and Molecular Neuroscience,Geriatrics and Gerontology,Neurology (clinical),Developmental Neuroscience,Health Policy,Epidemiology

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