Löfberg H, Grubb A O, Nilsson E K, Jensson O, Gudmundsson G, Blöndal H, Arnason A, Thorsteinsson L
Stroke. 1987 Mar-Apr;18(2):431-40. doi: 10.1161/01.str.18.2.431.
Cystatin C, a protein inhibitor of lysosomal cysteine proteinases, was demonstrated by immunohistochemical techniques to be present in the birefringent amyloid deposits of the small arteries in the cerebrum, cerebellum, and leptomeninges of 10 Icelandic individuals with hereditary cerebral hemorrhage with amyloidosis. Specimens from other organs were investigated in one of the patients, and amyloid angiopathy characterized by an immunoreactivity of cystatin C was found in a submandibular lymph node. No immunoreactivity of amyloid fibril protein AA, kappa or lambda immunoglobulin light chain, or prealbumin was observed. Significantly low cerebrospinal fluid concentrations of cystatin C were found in all 9 investigated individuals with hereditary cerebral hemorrhage with amyloidosis. The concentrations of beta 2-microglobulin, albumin, and IgG in the cerebrospinal fluid were within normal limits. Isoelectric focusing showed that cystatin C from the cerebrospinal fluid of 9 patients with hereditary cerebral hemorrhage with amyloidosis had an isoelectric point identical to that of normal individuals. This investigation demonstrates that hereditary cerebral hemorrhage with amyloidosis may be diagnosed by two laboratory methods: immunohistochemical investigation of cystatin C in brain tissue specimens and quantitation of cystatin C in cerebrospinal fluid.
胱抑素C是一种溶酶体半胱氨酸蛋白酶的蛋白质抑制剂，通过免疫组化技术证实，在10例患有遗传性脑出血伴淀粉样变性的冰岛人的大脑、小脑和软脑膜的小动脉双折射淀粉样沉积物中存在。在其中一名患者中对其他器官的标本进行了研究，在下颌下淋巴结中发现了以胱抑素C免疫反应性为特征的淀粉样血管病。未观察到淀粉样纤维蛋白AA、κ或λ免疫球蛋白轻链或前白蛋白的免疫反应性。在所有9例被研究的遗传性脑出血伴淀粉样变性患者中，发现脑脊液中胱抑素C的浓度显著降低。脑脊液中β2-微球蛋白、白蛋白和IgG的浓度在正常范围内。等电聚焦显示，9例遗传性脑出血伴淀粉样变性患者脑脊液中的胱抑素C的等电点与正常个体相同。这项研究表明，遗传性脑出血伴淀粉样变性可通过两种实验室方法进行诊断：对脑组织标本中的胱抑素C进行免疫组化研究以及对脑脊液中的胱抑素C进行定量分析。
