With Subcortical Infarcts And Leukoencephalopathy

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with mutations in the NOTCH 3 protein, which maps to chromosome 19q12. NOTCH signaling is important in development, but in adults, NOTCH 3 expression is limited to vascular smooth muscle cells, where its function is unknown. Pathologically, there are granular deposits in small cerebral arteries producing ischemic stroke because of vessel wall thickening, fibrosis, and occlusion. These deposits are found in small arteries throughout the body, and diagnosis may be confirmed by the presence of the osmiophilic granules in the basement membrane of vascular smooth muscle cells on skin biopsies.

CADASIL differs from other causes of diffuse subcortical ischemia, such as Binswanger's disease, by the frequent presence of migraine with or without aura, and individuals with CADASIL are not usually hypertensive. Occasionally, diagnostic confusion may occur with patients with multiple sclerosis, especially the primary progressive type, with the appearance of multiple white matter lesions.

CADASIL often presents in early adulthood, and most affected individuals show symptoms by age 60. In addition to migraine with or without aura, there may be depression and mood disturbances, focal neurological deficits, pseudobulbar palsy, and dementia. Approximately 10% of patients have seizures.

Davous, reviewing extent cases in 1998, proposed clinical diagnostic criteria to formalize the clinical data (Table 1).

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