Neuroscience Research Australia and the University of New South Wales, Randwick, Australia.
J Alzheimers Dis. 2010;22(3):981-4. doi: 10.3233/JAD-2010-101032.
Serum progranulin is decreased in frontotemporal dementia (FTD) patients with progranulin gene (PGRN) mutations. We investigate the utility of prospective serum screening as a surrogate diagnostic marker for progranulin mutations. A commercial ELISA was used to measure progranulin protein concentration in serum from 63 FTD patients and 32 normal controls, and DNA screening then performed. Four patients (2/17 behavioral variant, 2/8 corticobasal syndrome) had abnormally low progranulin levels with PGRN mutations confirmed on DNA testing. Surprisingly, elevated levels were found in 6/16 patients with progressive non-fluent aphasia, the significance of which is unclear. Serum testing is an accurate and cost effective means of predicting PGRN mutations.
血清颗粒蛋白前体在携带颗粒蛋白基因（PGRN）突变的额颞叶痴呆（FTD）患者中降低。我们研究了前瞻性血清筛查作为颗粒蛋白突变的替代诊断标志物的效用。使用商业 ELISA 测量了来自 63 名 FTD 患者和 32 名正常对照者的血清中颗粒蛋白前体蛋白浓度，然后进行 DNA 筛查。4 名患者（2/17 行为变异型，2/8 皮质基底节综合征）的颗粒蛋白水平异常降低，DNA 检测证实存在 PGRN 突变。令人惊讶的是，在 6/16 名进行性非流利性失语症患者中发现了升高的水平，其意义尚不清楚。血清检测是一种准确且具有成本效益的预测 PGRN 突变的方法。
