Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation
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DOI：
10.1111/neup.12280
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发表时间：
2016-08-01
期刊：
影响因子：
2.3
通讯作者：
Kakita, Akiyoshi
中科院分区：
文献类型：
--
作者：
Kimura, Tadashi;Miura, Takeshi;Kakita, Akiyoshi
特发性基底节钙化（IBGC），或称法尔病，是一种以脑内广泛钙化为特征的神经系统疾病。近年来，一些致病基因已被确定，但脑病变的组织病理学特征和基因产物的表达仍不清楚。在这里，我们报告的临床和尸检的特点，一个62岁的日本男子与家族性IBGC，其中SLC 20 A2突变被确定。患者出现轻度认知障碍和帕金森综合征。脑部CT扫描显示双侧基底节、丘脑和小脑异常钙化。此时的MRI研究显示胶质母细胞瘤，患者于6个月后死亡。尸检时，基底节、丘脑、小脑白色物质和大脑皮层深层的对称钙化明显。小动脉、小动脉和毛细血管的图尼卡中膜可见钙化，静脉未见钙化。使用针对第III型钠依赖性磷酸转运蛋白2（PiT-2），SLC 20 A2产品的抗体的免疫组织化学表明，星形胶质细胞的过程中的几个区域在控制大脑中被标记，而在患者中，星形胶质细胞的反应性明显较弱。免疫印迹显示患者的PiT-2显著降低。很少有IBGC患者的尸检报告证实了遗传背景。尸检的特点似乎为更好地了解IBGC病变的组织发生提供了信息。
Idiopathic basal ganglia calcification (IBGC), or Fahr's disease, is a neurological disorder characterized by widespread calcification in the brain. Recently, several causative genes have been identified, but the histopathologic features of the brain lesions and expression of the gene products remain unclear. Here, we report the clinical and autopsy features of a 62-year-old Japanese man with familial IBGC, in whom an SLC20A2 mutation was identified. The patient developed mild cognitive impairment and parkinsonism. A brain CT scan demonstrated abnormal calcification in the bilateral basal ganglia, thalami and cerebellum. An MRI study at this point revealed glioblastoma, and the patient died 6 months later. At autopsy, symmetric calcification in the basal ganglia, thalami, cerebellar white matter and deeper layers of the cerebral cortex was evident. The calcification was observed in the tunica media of small arteries, arterioles and capillaries, but not in veins. Immunohistochemistry using an antibody against type III sodium-dependent phosphate transporter 2 (PiT-2), the SLC20A2 product, demonstrated that astrocytic processes were labeled in several regions in control brains, whereas in the patient, reactivity in astrocytes was apparently weak. Immunoblotting demonstrated a marked decrease of PiT-2 in the patient. There are few autopsy reports of IBGC patients with confirmation of the genetic background. The autopsy features seem informative for better understanding the histogenesis of IBGC lesions.