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Cerebral small vessel disease (SVD) accounts for at least 20% of strokes and many cases of vascular dementia. Advanced age and arterial hypertension are the major known risk factors for cerebral SVD. However, in many patients the underlying cause remains unknown. Several hereditary conditions affecting small blood vessels of the brain have recently been identified: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)1; cerebroretinal vasculopathy (CRV)2; hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)2; hereditary vascular retinopathy (HVR)2; CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy)3; and Fabry disease (table).4 Moreover, there are various familial variants of cerebral amyloid angiopathy.5
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Table Hereditary disorders affecting small blood vessel of the brain
In this issue of Neurology, Vahedi et al.6 report a family in which six members from three successive generations developed a diffuse leukoencephalopathy with …
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