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Cerebral microbleeds in CADASIL
S A Lesnik Oberstein1, R van den Boom, M A van Buchem
1Department of Clinical Genetics, Leiden University Medical Center, Rijnland Hospital, Leiden, the Netherlands. lesnik@lumc.nl
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients show an increased risk of age-related cerebral microbleeds. This finding suggests a higher potential for intracerebral hemorrhage (ICH) in CADASIL, impacting diagnosis and management.
Area of Science:
- Neurology
- Vascular Neurology
- Neuroimaging
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy causing recurrent strokes and dementia.
- Intracerebral hemorrhage (ICH) is occasionally reported in CADASIL, but the propensity for microbleeding remains uncharacterized.
Purpose of the Study:
- To investigate the presence and prevalence of cerebral microbleeds in individuals with CADASIL.
- To determine if cerebral vessels in CADASIL patients are susceptible to microbleeding.
Main Methods:
- Utilized T2*-weighted gradient echo MRI, a sensitive technique for detecting microbleeds, in 63 CADASIL patients and family members.
- Assessed known risk factors for ICH and correlated microbleed presence with demographic, clinical, and genetic variables.
Main Results:
- Cerebral microbleeds were identified in 31% of symptomatic CADASIL mutation carriers, primarily in the thalamus.
- Microbleed occurrence was associated with age, disability score, antiplatelet use, lacunar lesions, and the Arg153Cys Notch3 mutation.
- After adjusting for age, the Arg153Cys mutation remained the sole significant predictor of microbleeds.
Conclusions:
- CADASIL patients exhibit an age-dependent increase in the risk of intracerebral microbleeds.
- The findings suggest an elevated risk for ICH in CADASIL, necessitating consideration in clinical practice.
- Early detection and management strategies for microbleeds are crucial for CADASIL patient care.
Background:
Cerebral autosomal dominant arteriopathy with subcortical infarcts 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 CADASIL.
Objective:
To determine whether cerebral vessels in patients with CADASIL are prone to microbleeding.
Methods:
T2*-weighted gradient echo MRI, which is highly sensitive for visualizing microbleeds, 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 correlated with demographic variables, vascular risk factors, disease progression, ischemic MR lesions, and genotype.
Results:
Cerebral microbleeds were present in 31% of symptomatic CADASIL mutation carriers, predominantly in the thalamus. Vascular risk factors such as hypertension did not account for the microbleeds in these patients. Factors associated with microbleeds were age (p = 0.008), Rankin disability score (p = 0.017), antiplatelet use (p = 0.025), number of lacunae on MRI (p = 0.009), and the Arg153Cys Notch3 mutation (p = 0.017). After correction for age, only the Arg153Cys mutation remained 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, which should be taken into account in CADASIL diagnosis and patient management.