Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)--confirmation by cerebral biopsy in 2 cases

Abstract

CADASIL is a recently recognized familial form of subcortical multi-infarct dementia. The pathogenesis of the disease is unknown, but it is characterized pathologically by a novel vasculopathy affecting leptomeningeal and subcortical arteries. We describe 2 cases in which the diagnosis could be made from the cerebral biopsy appearances of affected leptomeningeal vessels. The ultrastructural appearances of the vessel wall deposit are illustrated, and their similarity to those of immune complex deposits discussed.