Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder associated with neurological symptoms and findings on brain MRI. It is a rare disorder with a prevalence of approximately 4 per 100 000 persons. Common symptoms include migraine with aura, recurrent strokes, psychiatric symptoms, and progressive cognitive impairment. Most affected patients experience their first ischemic event in their 40s; however, strokes can occur as young as age 20. CADASIL patients invariably develop cognitive impairment, usually by the fourth decade of life.
Brain MRI characteristically shows subcortical white matter abnormalities. Genetic testing for the NOTCH3 gene can confirm the diagnosis. There is no effective treatment for this condition, and management is mainly symptomatic.
CADASIL
Synopsis
Codes
ICD10CM:
I67.850 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
SNOMEDCT:
390936003 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
I67.850 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
SNOMEDCT:
390936003 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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Last Reviewed:08/27/2019
Last Updated:08/29/2019
Last Updated:08/29/2019