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. 2018 Oct 3;99(1):21–78. doi: 10.1152/physrev.00050.2017

FIGURE 5.

FIGURE 5.

Human monogenic diseases of the blood-brain barrier. Endothelium: monogenic diseases affecting transporters include glucose transporter 1 (GLUT1) causing GLUT1 deficiency syndrome, major facilitator superfamily domain-containing protein 2a (MFSD2a) causing microcephaly 15, and monocarboxylate transporter-8 (MCT8) causing Allan-Herndon-Dudley syndrome. Cerebral cavernous malformations (CCM) are caused by mutations in endothelial proteins CCM1–3. Monogenic diseases affecting tight junctions include occludin that causes Pseudo-TORCH syndrome 1 and junctional adhesion molecule 3 (JAM3) that causes brain hemorrhagic destruction, subependymal calcification and congenital cataracts. Basement membrane: mutations affecting collagen type IV alpha 1 chain (COL4A1) and collagen type IV alpha 2 chain (COL4A2) lead to porencephaly, intracerebral hemorrhage, and cerebral small vessel disease. Pericytes: mutations in platelet-derived growth factor-BB (PDGF-BB), PDGF receptor-β (PDGFRB), solute carrier family 20 member 2 (SLC20A2), and xenotropic and polytropic retrovirus receptor 1 (XPR1) lead to idiopathic basal ganglia calcification. Vascular smooth muscle cells: mutations in notch homolog protein 3 (NOTCH3) cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and mutations in HtrA serine peptidase-1 (HTRA1) protein cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).