SYSTEMIC VASCULAR SMOOTH-MUSCLE CELL IMPAIRMENT IN CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by a cerebral non-athe rosclerotic, nonamyloid angiopathy mainly affecting the small arteries penetrating the white matter. In the brain vessels of two patients wi th CADASIL, abnormal patches of granular osmiophilic material have rec ently been described. Here we report the observation of similar granul ar osmiophilic material within the vessel walls of muscle and skin bio psies from a 54-year-old woman belonging to a CADASIL family, who suff ered from subcortical dementia with leukoencephalopathy demonstrated o n neuroimaging. Postmortem examination disclosed changes of the vessel walls in all the organs chiefly leading to cerebral lesions. Ultrastr uctural study showed destruction of the vascular smooth muscle cells ( VSMC) and the granular osmiophilic material already found in muscle an d skin biopsies in this patient. Both changes were found all along the arterial tree. The findings of this study indicate that CADASIL is a systemic vascular disease involving arterial VSMC and that the lesions are different in each organ and vessel wall, depending on their fine structure. Moreover, it emphasizes that skin and muscle biopsies might be useful for diagnosis of and research into CADASIL.