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The protocol for an observational Australian cohort study of CADASIL: The AusCADASIL study.
Saks, Danit G; Bajorek, Beata; Catts, Vibeke S; Bentvelzen, Adam C; Jiang, Jiyang; Wen, Wei; Mather, Karen A; Thalamuthu, Anbupalam; Huang-Lung, Jessie; Nivison-Smith, Lisa; Griffiths, Lyn R; Smith, Robert A; Sexton, Adrienne; James, Paul; Jayasena, Tharusha; Poljak, Anne; Hansra, Gurpreet K; Hosoki, Satoshi; Park, Ashley; Hillenbrand, Claudia M; van Wijngaarden, Peter; Chander, Russell J; Humphrey, Sam; Chen, Rory; Kochan, Nicole A; Helman, Tessa J; Levi, Christopher; Brodtmann, Amy; O'Sullivan, Michael J; Markus, Romesh; Butcher, Ken; Parsons, Mark; Kovacic, Jason C; Sachdev, Perminder S.
Afiliación
  • Saks DG; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Bajorek B; Heart and Stroke Program, Hunter Medical Research Institute, Newcastle, 2305, Australia.
  • Catts VS; Pharmacy Department, John Hunter Hospital, Newcastle, 2305, Australia.
  • Bentvelzen AC; School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, 2308, Australia.
  • Jiang J; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Wen W; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Mather KA; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Thalamuthu A; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Huang-Lung J; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Nivison-Smith L; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Griffiths LR; School of Optometry and Vision Science, University of New South Wales, Sydney, 2052, Australia.
  • Smith RA; School of Optometry and Vision Science, University of New South Wales, Sydney, 2052, Australia.
  • Sexton A; Genomics Research Centre, Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, 4059, Australia.
  • James P; Genomics Research Centre, Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, 4059, Australia.
  • Jayasena T; Genomic Medicine, Royal Melbourne Hospital, Melbourne, 3052, Australia.
  • Poljak A; Genomic Medicine, Royal Melbourne Hospital, Melbourne, 3052, Australia.
  • Hansra GK; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Hosoki S; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Park A; Bioanalytical Mass Spectrometry Facility, University of New South Wales, Sydney, 2052, Australia.
  • Hillenbrand CM; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • van Wijngaarden P; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Chander RJ; Department of Neurology, Royal Melbourne Hospital, Melbourne, 3052, Australia.
  • Humphrey S; Research Imaging NSW, University of New South Wales, Sydney, 2031, Australia.
  • Chen R; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, 3002, Australia.
  • Kochan NA; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, 3052, Australia.
  • Helman TJ; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Levi C; Department of Neurology, Royal Melbourne Hospital, Melbourne, 3052, Australia.
  • Brodtmann A; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • O'Sullivan MJ; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Markus R; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, 2052, Australia.
  • Butcher K; School of Medicine and Public Health, University of Newcastle, Newcastle, 2308, Australia.
  • Parsons M; John Hunter Health and Innovation Precinct (JHHIP), Newcastle, 2305, Australia.
  • Kovacic JC; Neurology Department, John Hunter Hospital, Newcastle, 2305, Australia.
  • Sachdev PS; Department of Neurology, Royal Melbourne Hospital, Melbourne, 3052, Australia.
Cereb Circ Cogn Behav ; 6: 100225, 2024.
Article en En | MEDLINE | ID: mdl-38841148
ABSTRACT

Introduction:

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition with a broad phenotypic presentation. This study aims to establish the first Australian cohort of individuals affected by CADASIL (AusCADASIL) and examine its clinical features and longitudinal course, and to investigate neuroimaging and blood biomarkers to assist in early diagnosis and identify disease progression.

Methods:

Participants will be recruited from six study centres across Australia for an observational study of CADASIL. We aim to recruit 150 participants with diagnosed CADASIL, family history of CADASIL or suspected CADASIL symptoms, and 150 cognitively normal NOTCH3 negative individuals as controls. Participants will complete 1) online questionnaires on medical and family history, mental health, and wellbeing; 2) neuropsychological evaluation; 3) neurological examination and brain MRI; 4) ocular examination and 5) blood sample donation. Participants will have annual follow-up for 4 years to assess their progression and will be asked to invite a study partner to corroborate their self-reported cognitive and functional abilities.Primary outcomes include cognitive function and neuroimaging abnormalities. Secondary outcomes include investigation of genetics and blood and ocular biomarkers. Data from the cohort will contribute to an international consortium, and cohort participants will be invited to access future treatment/health intervention trials.

Discussion:

AusCADASIL will be the first study of an Australian cohort of individuals with CADASIL. The study will identify common pathogenic variants in this cohort, and characterise the pattern of clinical presentation and longitudinal progression, including imaging features, blood and ocular biomarkers and cognitive profile.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cereb Circ Cogn Behav Año: 2024 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cereb Circ Cogn Behav Año: 2024 Tipo del documento: Article País de afiliación: Australia