Cerebral microbleeds in CADASIL

Background: Cerebral autosomal dominant arteriopathy with subcortical infar cts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy leading to recurrent cerebral infarcts and dementia. Intracerebral hemorrhage (ICH) has been described sporadically in patients with CADASIL, suggesting that the affected arteries in CADASIL are not bleed-prone. However, the presence of cerebral microbleeds, which often remain undetected on conventional MRI , has not been determined in CADA-SIL. Objective: To determine whether cere bral vessels in patients with CADASIL are prone to microbleeding. Methods: T2*-weighted gradient echo MRI, which is highly sensitive for visualizing m icrobleeds, was performed in patients with CADASIL and their family members (n = 63). Known risk factors for ICH were determined for all individuals. On an exploratory basis, the presence of cerebral microbleeds was correlate d with demographic variables, vascular risk factors, disease progression, i schemic I IR lesions, and genotype. Results: Cerebral microbleeds were pres ent in 31% of symptomatic CADA-SIL mutation carriers, predominantly in the thalamus. Vascular risk factors such as hypertension did not account for th e microbleeds in these patients. Factors associated with microbleeds were a ge (p = 0.008), Rankin disability score (p = 0.017), antiplatelet use (p = 0.025), number of lacunae on I IRI (p = 0.009), and the Arg153Cys Notch3 mu tation (p 0.017). After correction for age, only the Arg153Cys mutation rem ained significantly associated with the presence of microbleeds. Conclusion : Patients with CADASIL have an age-related increased risk of intracerebral microbleeds. This implies that they may have an increased risk for ICH, wh ich should be taken into account in CADASIL diagnosis and patient managemen t.