Shpilyukova Yulia A, Fedotova Ekaterina Yu, Abramycheva Natalia Yu, Shabalina Alla A, Illarioshkin Sergey N
Research Center of Neurology, Moscow, Russia.
Basic Clin Neurosci. 2025 Jan-Feb;16(1):107-114. doi: 10.32598/bcn.2024.5797.1. Epub 2025 Jan 1.
Frontotemporal dementia (FTD) is a heterogeneous group of diseases with a complex clinical picture, including cognitive decline, behavioral and speech problems, psychiatric symptoms, and parkinsonism. Diagnosis of FTD is complex and requires the use of informative biomarkers.
We examined 226 Russian patients with FTD (mean age 69±10 years) and estimated the prevalence of the three most common genetic causes-mutations in the , , and genes. We also assessed the role of biochemical biomarkers, such as serum progranulin (PGRN) level and cerebrospinal fluid (CSF) levels of amyloid β (Aβ)-42 and phosphorylated tau protein (p-tau181).
Mutations in , , and were present in 6%, 12.5%, and 2.5% of patients, respectively. The clinical phenotypes of these patients were described in detail. Low serum PGRN could be used to predict -associated FTD cases. In most cases, we found normal CSF levels of Aβ-42 and p-tau181 except for 6, who had decreased Aβ-42 levels and normal p-tau181 levels.
We have conducted the first study of the genetic structure of FTD in Russia, the results of which, combined with other biomarkers, will help improve the diagnosis of the disease.
额颞叶痴呆（FTD）是一组异质性疾病，临床表现复杂，包括认知功能下降、行为和言语问题、精神症状以及帕金森综合征。FTD的诊断较为复杂，需要使用有效的生物标志物。
我们对226例俄罗斯FTD患者（平均年龄69±10岁）进行了检查，评估了三种最常见遗传病因—— 、 和 基因的突变发生率。我们还评估了生化生物标志物的作用，如血清前颗粒蛋白（PGRN）水平以及脑脊液（CSF）中淀粉样β蛋白（Aβ）-42和磷酸化tau蛋白（p-tau181）的水平。
、 和 基因的突变分别出现在6%、12.5%和2.5%的患者中。详细描述了这些患者的临床表型。低血清PGRN可用于预测与 相关的FTD病例。在大多数情况下，我们发现CSF中Aβ-42和p-tau181水平正常，不过有6例患者Aβ-42水平降低而p-tau181水平正常。
我们在俄罗斯首次开展了FTD遗传结构研究，其结果与其他生物标志物相结合，将有助于改善该疾病的诊断。
