Rosso Sonia M, van Herpen Esther, Pijnenburg Yolande A L, Schoonenboom Niki S M, Scheltens Philip, Heutink Peter, van Swieten John C
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
Arch Neurol. 2003 Sep;60(9):1209-13. doi: 10.1001/archneur.60.9.1209.
Frontotemporal dementia (FTD) is a pathologically heterogeneous group of presenile neurodegenerative disorders, with or without the deposition of hyperphosphorylated tau protein in affected brain regions. Mutations in the tau gene have been found in the familial form of FTD, linked to chromosome 17q21-22, showing a spectrum of tauopathy.
To evaluate levels of total tau, phosphorylated tau 181 (Ptau-181), and amyloid-beta1-42 in the cerebrospinal fluid (CSF) of patients with FTD, with special emphasis on FTD due to tau mutations.
Case-control study.
Outpatient neurology clinics at 2 university medical centers, in Rotterdam and Amsterdam (the Netherlands).
Twenty-six patients with FTD (9 with tau mutations 7 P301L and 2 G272V), 18 patients with Alzheimer disease (AD), and 13 nondemented controls.
Total tau, Ptau-181, and amyloid-beta1-42 levels in CSF, obtained by lumbar puncture, were determined by sandwich enzyme-linked immunosorbent assay. Patients were diagnosed after clinical examination, neuropsychologic evaluation, and neuroimaging. Differences between patient groups were statistically evaluated using nonparametric tests.
Although CSF levels of total tau were mildly increased in FTD patients compared with nondemented controls (P =.05), median CSF total tau levels were low in the subgroup with tau mutations compared with AD patients. Furthermore, CSF levels of Ptau-181 and amyloid-beta1-42 were not different in FTD patients, including the patients with tau mutations, compared with nondemented controls.
The tauopathy in P301L and G272V does not appear to be associated with an evident increase in CSF levels of Ptau-181 in FTD patients with these tau mutations, in contrast with findings in patients with AD.
额颞叶痴呆（FTD）是一组病理特征各异的早老性神经退行性疾病，受累脑区可有或无过度磷酸化tau蛋白沉积。在与17号染色体q21 - 22连锁的家族性FTD中发现了tau基因突变，呈现出一系列tau蛋白病。
评估FTD患者脑脊液（CSF）中总tau蛋白、磷酸化tau181（Ptau - 181）和β淀粉样蛋白1 - 42的水平，尤其关注因tau基因突变导致的FTD。
病例对照研究。
荷兰鹿特丹和阿姆斯特丹的两家大学医学中心的门诊神经科诊所。
26例FTD患者（9例有tau基因突变，7例P301L突变和2例G272V突变），18例阿尔茨海默病（AD）患者，以及13名非痴呆对照者。
通过腰椎穿刺获取CSF，采用夹心酶联免疫吸附测定法测定总tau蛋白、Ptau - 181和β淀粉样蛋白1 - 42水平。患者经临床检查、神经心理学评估和神经影像学检查后确诊。使用非参数检验对患者组间差异进行统计学评估。
与非痴呆对照者相比，FTD患者CSF中总tau蛋白水平轻度升高（P = 0.05），但与AD患者相比，有tau基因突变的亚组中CSF总tau蛋白水平中位数较低。此外，与非痴呆对照者相比，FTD患者（包括有tau基因突变的患者）CSF中Ptau - 181和β淀粉样蛋白1 - 42水平无差异。
与AD患者的研究结果相反，在携带这些tau基因突变的FTD患者中，P301L和G272V的tau蛋白病似乎与CSF中Ptau - 181水平的明显升高无关。
