Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, Lübeck, 23538, Germany.
Curr Neurol Neurosci Rep. 2014 Oct;14(10):490. doi: 10.1007/s11910-014-0490-4.
Bilateral accumulation of calcium in the brain, most commonly in the basal ganglia, but also in the cerebellum, thalamus, and brainstem can be inherited in an autosomal dominant fashion and is then referred to as primary familial brain calcifications (PFBC). Clinical manifestations include a spectrum of movement disorders and neuropsychiatric abnormalities. In the past 2 years, 3 genes have been identified to cause PFBC, (ie, SLC20A2, PDGFRB, and PDGFB). SCL20A2 encodes the Type III sodium-dependent inorganic phosphate (Pi) transporter 2 (PiT2) and, when mutated, uptake of Pi is severely impaired likely causing buildup of calcium phosphate. The second identified cause of PFBC is mutations in PDGFRB, which codes for platelet-derived growth factor receptor β (PDGF-Rβ). Interestingly, the third PFBC gene is PDGFB that encodes the ligand of PDGF-Rβ, which is secreted during angiogenesis to recruit pericytes, thereby implying impairment of the blood-brain barrier as a disease mechanism of PFBC.
脑内钙的双侧蓄积，最常见于基底节区，但也可见于小脑、丘脑和脑干，呈常染色体显性遗传，称为特发性家族性脑钙沉积症（PFBC）。临床表现包括一系列运动障碍和神经精神异常。在过去的 2 年中，已经发现了 3 个导致 PFBC 的基因，即 SLC20A2、PDGFRB 和 PDGFB。SCL20A2 编码 III 型钠依赖性无机磷（Pi）转运体 2（PiT2），当发生突变时，Pi 的摄取严重受损，可能导致磷酸钙的蓄积。PFBC 的第二个已确定的病因是 PDGFRB 基因突变，其编码血小板衍生生长因子受体β（PDGF-Rβ）。有趣的是，第三个 PFBC 基因是 PDGFB，它编码 PDGF-Rβ 的配体，在血管生成过程中分泌以募集周细胞，从而表明血脑屏障的损伤是 PFBC 的一种疾病机制。
