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Chapter 15 - Cerebral microbleeds inCADASIL

from Section 3 - Microbleeds in relation to specific populations, diseases and neurological symptoms

Published online by Cambridge University Press:  05 July 2011

David J. Werring
Affiliation:
Institute of Neurology, London
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Summary

The main clinical manifestations of the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) include attacks of migraine with aura, mood disturbances, recurrent ischemic strokes and progressive cognitive decline. The most common areas for cerebral microbleeds (CMB) in CADASIL are the thalamus (61.5% of patients with CMB), brainstem, basal ganglia and cortex or cortico-subcortical junction in the temporal and occipital areas. CMB are detected in the cerebellum in 25% of cases where lacunar infarcts or white matter hyperintensities (WMH) are typically absent. As one of the key imaging markers in cerebral small vessel disease, CMB are strongly correlated with WMHs and lacunar lesions in CADASIL. The gene NOTCH3 encodes a single-pass transmembrane protein. Although NOTCH3 has 33 exons, CADASIL mutations occur in exons 2-24, which encode the epidermal growth factor repeats (EGFR) domains. CMB have also been associated with clinical disability in CADASIL.
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Cerebral Microbleeds
Pathophysiology to Clinical Practice
, pp. 135 - 141
Publisher: Cambridge University Press
Print publication year: 2011

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