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Brain atrophy represents a key marker of disease progression in cerebrovascular disorders. The 3D changes of cortex morphology occurring during the course of small vessel diseases of the brain (SVDB) remain poorly understood. The objective of this study was to assess the changes affecting depth and surface area of cortical sulci and their clinical and radiological correlates in a cohort of patients with cerebral autosomal dominant arteriolopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic SVDB. Data were obtained from a series of 69 CADASIL patients. Validated methods were used to determine depth and surface area of four cortical sulci. The ratio of brain to intracranial cavity volumes (brain parenchymal fraction--BPF), volume of lacunar lesions (LL) and of white matter hyperintensities, number of cerebral microhaemorrhages, and mean apparent diffusion coefficient were also measured. Association between depth and surface area of the cortical sulci and BPF, clinical status and subcortical MRI lesions were tested. Depth and surface area of cortical sulci obtained in 54 patients were strongly correlated with both cognitive score and disability scales. Depth was related to the extent of subcortical lesions, surface area was related only to age. In additional analyses, the depth of the cingular sulcus was independently associated with the volume of LL (P = 0.001), and that of the superior frontal sulcus with the mean apparent diffusion coefficient (P = 0.003). In CADASIL, important morphological changes of cortical sulci occur in association with clinical worsening, extension of subcortical tissue damage and progression of global cerebral atrophy. These results suggest that the examination of cortical morphology may be of high clinical relevance in SVDB.

Cortical changes in cerebral small vessel diseases: a 3D MRI study of cortical morphology in CADASIL