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Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
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.
Afiliación
  • Dilliott AA; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
  • Berberian SA; 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.
  • Sunderland KM; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.
  • Binns MA; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.
  • Zimmer J; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
  • Ozzoude M; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
  • Scott CJM; 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.
  • Gao F; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
  • Lang AE; 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.
  • Breen DP; 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.
  • Tartaglia MC; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
  • Tan B; 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.
  • Swartz RH; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
  • Rogaeva E; Division of Neurology, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.
  • Borrie M; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.
  • Finger E; 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.
  • Fischer CE; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.
  • Frank A; Heart and Stroke Foundation Canadian Partnership for Stroke Recovery, Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, Toronto, Ontario, Canada.
  • Freedman M; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
  • Kumar S; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
  • Pasternak S; St. Joseph's Healthcare Centre, London, Ontario, Canada.
  • Pollock BG; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
  • Rajji TK; Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Tang-Wai DF; Department of Medicine (Neurology), University of Ottawa Brain and Mind Research Institute and Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Abrahao A; Bruyère Research Institute, Ottawa, Ontario, Canada.
  • Turnbull J; Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada.
  • Zinman L; Department of Medicine (Neurology), Baycrest Health Sciences, Mt. Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Casaubon L; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Dowlatshahi D; Adult Neurodevelopment and Geriatric Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Hassan A; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
  • Mandzia J; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Sahlas D; Adult Neurodevelopment and Geriatric Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Saposnik G; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Grimes D; Adult Neurodevelopment and Geriatric Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Marras C; Toronto Dementia Research Alliance, University of Toronto, Toronto, Ontario, Canada.
  • Steeves T; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.
  • Masellis M; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.
  • Farhan SMK; Division of Neurology, Department of Medicine, Hamilton Health Sciences, McMaster University, Hamilton, Canada.
  • Bartha R; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.
  • Symons S; Department of Medicine (Neurology), Sunnybrook Health Sciences and University of Toronto, Ontario, Canada.
  • Hegele RA; Department of Medicine (Neurology), University of Ottawa Brain and Mind Research Institute and Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Black SE; Thunder Bay Regional Health Research Institute, Thunder Bay, Ontario, Canada.
  • Ramirez J; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Alzheimers Dement ; 19(12): 5583-5595, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37272523
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Enfermedades de los Pequeños Vasos Cerebrales / Disfunción Cognitiva Límite: Humans Idioma: En Revista: Alzheimers Dement Año: 2023 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Enfermedades de los Pequeños Vasos Cerebrales / Disfunción Cognitiva Límite: Humans Idioma: En Revista: Alzheimers Dement Año: 2023 Tipo del documento: Article País de afiliación: Canadá