{
  "abstract": "Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cause of cerebral small vessel disease. Approximately 1250 individuals are expected to have CADASIL in Australia based on international prevalence figures, but the NOTCH3 CADASIL-causing mutation may be present in up to 1% of the population.Methods The AusCADASIL study is the first Australian cohort of CADASIL. The clinical and genetic profile of CADASIL and matched controls is investigated through a comprehensive battery including neuropsychology assessment, brain MRI, physical examination and online questionnaires. This case series represents preliminary data of the first 26 individuals with CADASIL from AusCADASIL.Results Cases ranged from 28 to 76 years old (mean 54 years, 46% female) with average age at diagnosis of 44 years. Significant, moderate to extensive T2 white matter hyperintensities were noted in 25/26 cases. 14 individuals (54%) reported a previously diagnosed stroke/transient ischemic attack and 14 (54%) reported ever experiencing migraine, with average migraine onset of 34 years. Migraines were classified as severe (54%), moderate (23%) or mild (23%) with predominant symptoms being visual disturbance/aura (86%) followed by cognitive concerns (64%) and neurological (motor/sensory) deficits (57%). MoCA scores at study assessment ranged from 14 to 30, average 26.Conclusion In this case series of genetically-confirmed CADASIL, migraines were reported 10 years prior to CADASIL diagnosis sometimes in absence of other ischemic events. This suggests CADASIL should be considered as a differential diagnosis, particularly when patients present with complex migraines and significant white matter hyperintensities.",
  "authors": [
    {
      "affiliations": [
        "Centre for Healthy Brain Ageing, UNSW, Kensington, Sydney, NSW, Australia"
      ],
      "name": "Danit G Saks"
    },
    {
      "affiliations": [
        "Centre for Healthy Brain Ageing, UNSW, Kensington, Sydney, NSW, Australia",
        "Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, NSW, Australia"
      ],
      "name": "Perminder S Sachdev"
    },
    {
      "affiliations": [
        "Centre for Healthy Brain Ageing, UNSW, Kensington, Sydney, NSW, Australia"
      ],
      "name": "AusCADASILStudy Team"
    }
  ],
  "title": "3538 Clinical profile of CADASIL: a preliminary case series from AusCADASIL",
  "uid": "931b5d43-876b-592a-9d4e-3659eceeb84d"
}