Abstract
Here we review rare cerebral vasculopathies associated with either monogenic or chromosomal disorders. Identification of these disorders has important implications for prevention and treatment as well as allowing identification of other family members at risk. These disorders include inborn errors of metabolism such as Fabry disease, homocystinuria, Menkes disease and the mitochondrial disorders, as well as the genetic disorders leading to early atherosclerosis including the hyperlipidemias and Tangier disease. Collagen vascular disorders such as Ehlers–Danlos syndrome type IV, Marfan syndrome, Loeys–Dietz syndrome, and pseudoxanthoma elasticum can increase the risk of arterial dissection. Moyamoya syndrome, a severe cerebrovascular disorder, has been described in a variety of monogenic and chromosomal disorders including sickle cell anemia, neurofibromatosis type I, and also Down and Williams syndrome. Small vessel vasculopathies include CADASIL, CARASIL, and mutations in the COL4A1 gene.
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