Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder affecting cerebral arteries.


Inheritance: autosomal dominant


Gene affected: NOTCH3 on Chromosome 19 (19p13.1) at nucleotide 259 (C259T)


Clinical features:

(1) migraine headaches, often starting in early adulthood

(2) stroke-like episodes in the fifth or sixth decades

(3) aphasia

(4) hemiparesis

(5) vascular dementia


Imaging study findings:

(1) multiple subcortical infarcts

(2) multifocal white matter disease, sometimes symmetrical


Pathologic finding: non-atherosclerotic, non-amyloid small vessel vasculopathy with eosinophilic, granular material replacing smooth muscle. These changes can be seen in skin biopsies involving small dermal blood vessels.


Differential diagnosis:

(1) multiple sclerosis

(2) other small vessel vasculopathies (atherosclerosis, cerebral amyloid arteriopathy, vasculitis)


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