Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation

Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) caused by mutations of the 33-exon NOTCH3 gene is the most common single gene disorder of stroke.1 To date, more than 200 different NOTCH3 mutations have been reported worldwide, while R544C in exon 11 was the most prevalent hot spot mutation in East Asia and accounted for more than 70% of the patients in their CADASIL cohorts.2 3 Patients with CADASIL may suffer from ischaemic stroke (IS) and intracerebral haemorrhage (ICH), especially among Asians. Therefore, we aimed to compare the clinical features of acute ICH vs IS events in patients with CADASIL and focused on the effects of ICH on stroke recurrence and long-term outcome. The patients enrolled in this study were prospectively recruited from a multicentre stroke registry established since 2006 with at least 12 hospitals in Taiwan. We screened R544C mutation from participants who provided their blood sample and those whose harbouring R544C mutation were then included in the present study. Preadmission, inpatient and discharge data were collected by trained personnel. The responsible neurologist on each study site will examine the medical record or interview the patients to acquire follow-up information. All patients received at least one neuroimaging examination to document the locations of acute stroke. Abnormal white matter hyperintensity (WMH) lesion was scored by the Fazekas scale. The number and …