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CADASIL

Wednesday 11 June 2003

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a systemic vascular disease caused by Notch 3 gene mutations.

Electron microscopy

On electron microscopy a specific granular osmiophilic material (GOM) is found surrounding the vascular smooth muscle cells. (12172909)

Etiology

- germline mutations in the Notch3 gene

References

- Morphometric analysis of ultrastructural vascular changes in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications. Brulin P, Godfraind C, Leteurtre E, Ruchoux MM. Acta Neuropathol. 2002 Sep;104(3):241-8. PMID: 12172909