AusCADASIL: An Australian Cohort of CADASIL


This project aims to establish an Australian cohort of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) to examine the clinical features and longitudinal course and investigate neuroimaging and blood biomarkers for an early diagnosis and disease progression.  

Study objectives

  1. To characterise the clinical features of the disease that contribute most to disability (e.g., motor deficits, migraine, cognitive impairment, apathy, fatigue, depression, anxiety).
  2. To examine the CADASIL neuropsychological profile and identify which neuropsychology tests are most sensitive to determine cognitive decline
  3. To describe changes on MRI that are useful for the early diagnosis of CADASIL.
  4. To develop blood biomarkers of cerebral small vessel disease using CADASIL as a model disease.
  5. To describe retinal changes that are associated with CADASIL.
  6. To determine the longitudinal course of mood disturbances, cognitive impairment, and MRI changes in CADASIL.
  7. To describe the role of vascular risk factors (e.g., smoking, hypertension, diabetes) for stroke in CADASIL patients.
  8. To determine the mutation variants in the NOTCH3 gene in Australian patients, and the influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL.
  9. Develop a trial ready cohort for the investigation of novel treatment strategies.
  10. Contribute to international collaborative efforts in CADASIL

Study volunteers needed

AusCADASIL is a new study, recently established by researchers at CHeBA and collaborating institutes. This study investigates a genetic condition called CADASIL, which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, often considered to be a 'pure' model for small vessel disease and vascular dementia.

The study will include online and in-person assessments of clinical features, cognitive testing, brain MRI scan, ocular examination, and a blood sample for genetic and biomarker analysis. We will invite you to return for annual follow-up for four years, and we will ask you to involve a study partner who can answer some online questions about your health and wellbeing. 

We are looking for volunteers, aged 18 or over, for either the CADASIL cohort- including those with diagnosed CADASIL, CADASIL symptoms or a family history of CADASIL. We are also looking for healthy individuals without CADASIL to participate in this study. Family members may apply.


If you would like more information or are interested in participating in this study, please contact Dr Danit Saks on 9348 1658 or at

Research Personnel 

  • Professor Perminder Sachdev
  • Professor Christopher Levi
  • Professor Amy Brodtmann
  • Professor Michael O’Sullivan
  • Professor Beata Bajorek
  • Associate Professor Romesh Markus
  • Professor Ken Butcher
  • Professor Mark Parsons
  • Professor Jason Kovacic
  • Dr Danit Saks
  • Professor Paul James
  • Associate Professor Adrienne Sexton
  • Dr Jessie Huang-Lung
  • Professor Lyn Griffiths
  • Associate Professor Peter van Wijngaarden
  • Dr Vibeke Catts
  • Dr Jiyang Jiang
  • Associate Professor Wei Wen
  • Dr Tharusha Jayasena
  • Dr Karen Mather
  • Dr Anne Poljak
  • Dr Adam Bentvelzen
  • Dr Satoshi Hosoki
  • Dr Robert Smith
  • Dr Russell Chander
  • Ms Gurpreet Hansra
  • Dr Ashley Park
  • Mr Patrick Clementson