Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E ε4 frequency, but no tau gene mutations
Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E ε4 frequency, but no tau gene mutations
复制标题
DOI：
10.1006/exnr.2000.7613
复制
发表时间：
2001-04-01
影响因子：
5.3
通讯作者：
Lannfelt, L
中科院分区：
文献类型：
--
作者：
Fabre, SF;Forsell, C;Lannfelt, L
额颞叶痴呆（FTD）属于一组称为tau蛋白病的神经退行性疾病，其特征在于脑中过度磷酸化tau蛋白的细胞内聚集。一些tau蛋白病，如阿尔茨海默病（AD），始终显示脑脊液（CSF）中tau蛋白水平升高，然而，在FTD人群中进行的类似研究显示了不同的结果，尽管tau基因突变被确定为某些FTD家族的疾病原因。在本研究中，研究了瑞典临床FTD人群的CSF tan水平、载脂蛋白E（APOE）基因型分布和tau基因突变发生率。FTD患者的CSF tau水平显著升高（534 +/- 235 pg tau/ml，P < 0.001）（n = 47）与对照组（316 137 pg tau/ml）（n = 51）相比，此外，在FTD人群中发现APOE ε 4等位基因频率显著增加，因为52%为ε 4携带者，而对照组为21%。然而，未发现tau基因突变。这些发现支持了目前的观点，即在几种tau蛋白病的疾病过程中存在共同的致病途径，APOE ε 4和CSF tau是不同疾病之间的病理联系。此外，我们得出结论，tau基因突变是FTD的罕见原因，（C）2001学术出版社。
Frontotemporal dementia (FTD) belongs to a group of neurodegenerative disorders known as tauopathies, characterized by intracellular aggregation of hyperphosphorylated tau protein in the brain. Some tauopathies, like Alzheimer's disease (AD), consistently show increased levels of tau protein in cerebrospinal fluid (CSF), However, similar studies in FTD populations have shown variable results, although mutations in the tau gene are identified as causes of disease in certain FTD families. In the present study, a Swedish clinic-based FTD population was investigated with respect to CSF tan levels, apolipoprotein E (APOE) genotype distribution and occurrence of mutations in the tau gene. CSF tau levels were significantly increased among FTD patients (534 +/- 235 pg tau/ml, P < 0.001) (n = 47) compared to controls (316 137 pg tau/ml) (n = 51), Furthermore, a strong increase in the APOE epsilon4 allele frequency was found in the FTD population, as 52% were epsilon4 carriers, compared to 21% of the controls. However, no mutations in the tau gene were identified. These findings support the present notion of a common pathogenic pathway in the disease processes for several tauopathies, with both APOE epsilon4 and CSF tau being a pathological link between the different disorders. Furthermore, we conclude that mutations in the tau gene are a rare cause of FTD, (C) 2001 Academic Press.