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单词 cadasil
释义

CADASIL


CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy. An autosomal dominant neurologic disorder of adult onset caused by mutations in NOTCH3, which maps to chromosome 19q12.
Clinical findings
Migraine, recurrent strokes, progressive dementia.
Diagnosis
MRI—anterior temporal pole involvement, skin biopsy with anti-NOTCH3 antibody.
DiffDx
Binswanger’s disease
Management
Supportive

CADASIL


AcronymDefinition
CADASILCerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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更新时间:2024/11/14 3:25:44