However, it can be explained only in part by vascular risk factors. Leukoaraiosis, a relatively frequent neuroimaging entity, is presumed to be primarily a vascular problem. Electron microscopy revealed fragmentation and thickening of the basal lamina but electron-dense granules characteristic for CADASIL were not detected. Histologically, the vessels showed concentric and excentric intimal proliferation, an elastosis and hyalinosis, splitting of the lamina elastica interna and a degeneration of the tunica muscularis. In five cases an autopsy was performed which disclosed an angiopathy affecting predominantly the penetrating arteries with consecutive lacunar infarcts, diffuse demyelination and rarefication of the subcortical white matter and degeneration of the pyramidal tracts. A correlation with factors predisposing for vascular diseases could not be demonstrated. Cranial computer tomography and magnetic resonance imaging scans showed large confluent areas with decreased density in the white matter and small necroses in the brain stem, the basal ganglia and the white matter. Migraine-like complaints and epileptic seizures were observed in one case each. Clinical symptoms included gait disturbances, dysarthria, sensomotoric deficits and a progressive dementia.
Onset of the disease was between the age of 12 and 50. The disease occurred in a family living near Hamburg, Germany, and affected 11 women and 11 men over the last six generations. In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the NOTCH 3 gene were found. A cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is described with a pedigree suggestive for an autosomal dominant condition.
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