Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 705-711, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-911781
ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutation. The main manifestations of the disease are migraine,cerebral ischemic stroke, progressive cognitive impairment, psychological abnormality which developed at different stage of disease. Multiple cerebral lacunar infarctions, white matter T 2 hyperintensities and cerebral microbleeds can be seen on brain magnetic resonance imaging. The definite diagnosis evidence of CADASIL is the presence of granularosmiophilic material on the surface of arteriolar smooth muscle cells and (or) the identification of pathogenic variants of NOTCH3 gene. With the wide application of second-generation sequencing, more and more patients with CADASIL have been diagnosed. This article will give a summary on the pathogenesis mechanism, clinical manifestations, diagnostic workup, and management of CADASIL.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Neurology
Year:
2021
Type:
Article
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