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CADASIL
Other Resources UpToDate PubMed

CADASIL

Contributors: Carolyn Zyloney MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
I67.850 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

SNOMEDCT:
390936003 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

The following conditions can cause symptoms resembling CADASIL: The following conditions are associated with neurological symptoms and can cause imaging findings resembling CADASIL: The differential diagnosis for CADASIL also includes other genetic leukoencephalopathies including:
  • Fabry disease
  • Adult-onset autosomal dominant leukodystrophy
  • X-linked adrenoleukodystrophy
  • Metachromatic leukodystrophy
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
  • Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/28/2019
Last Updated:08/30/2019
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CADASIL
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CADASIL : Depressed mood, Cognitive impairment
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