Frontotemporal Dementia in Russia: Genetic Structure, Phenotypic Diversity, and Diagnostic Biomarkers.

IF 1.1 Q4 NEUROSCIENCES

Basic and Clinical Neuroscience Pub Date : 2025-01-01 DOI:10.32598/bcn.2024.5797.1

Yulia A Shpilyukova, Ekaterina Yu Fedotova, Natalia Yu Abramycheva, Alla A Shabalina, Sergey N Illarioshkin

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引用次数: 0

Abstract

Introduction: 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.

Methods: 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 C9orf72, GRN, and MAPT 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).

Results: Mutations in C9orf72, GRN, and MAPT 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 GRN-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.

Conclusion: 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.

Abstract Image

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俄罗斯额颞叶痴呆：遗传结构、表型多样性和诊断性生物标志物。

额颞叶痴呆（FTD）是一种异质性疾病，具有复杂的临床表现，包括认知能力下降、行为和语言问题、精神症状和帕金森病。FTD的诊断是复杂的，需要使用信息丰富的生物标志物。方法：我们检查了226名俄罗斯FTD患者（平均年龄69±10岁），并估计了三种最常见的遗传原因——C9orf72、GRN和MAPT基因突变的患病率。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）水平和脑脊液(CSF) β淀粉样蛋白(Aβ)-42和磷酸化tau蛋白（p-tau181）的水平。结果：C9orf72、GRN和MAPT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grn相关的FTD病例。在大多数病例中，我们发现脑脊液中a - β-42和p-tau181水平正常，但6例患者a - β-42水平下降，p-tau181水平正常。结论：我们在俄罗斯首次进行了FTD遗传结构的研究，其结果与其他生物标志物相结合，将有助于提高疾病的诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Basic and Clinical Neuroscience NEUROSCIENCES-

CiteScore

2.60

自引率

0.00%

发文量

审稿时长

4 weeks

期刊介绍： BCN is an international multidisciplinary journal that publishes editorials, original full-length research articles, short communications, reviews, methodological papers, commentaries, perspectives and “news and reports” in the broad fields of developmental, molecular, cellular, system, computational, behavioral, cognitive, and clinical neuroscience. No area in the neural related sciences is excluded from consideration, although priority is given to studies that provide applied insights into the functioning of the nervous system. BCN aims to advance our understanding of organization and function of the nervous system in health and disease, thereby improving the diagnosis and treatment of neural-related disorders. Manuscripts submitted to BCN should describe novel results generated by experiments that were guided by clearly defined aims or hypotheses. BCN aims to provide serious ties in interdisciplinary communication, accessibility to a broad readership inside Iran and the region and also in all other international academic sites, effective peer review process, and independence from all possible non-scientific interests. BCN also tries to empower national, regional and international collaborative networks in the field of neuroscience in Iran, Middle East, Central Asia and North Africa and to be the voice of the Iranian and regional neuroscience community in the world of neuroscientists. In this way, the journal encourages submission of editorials, review papers, commentaries, methodological notes and perspectives that address this scope.