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Yulia A. Shpilyukova * 
1, Ekaterina Yu. Fedotova1 , Natalia Yu. Abramycheva1 , Alla A. Shabalina1 , Sergey N. Illarioshkin1
1, Ekaterina Yu. Fedotova1 , Natalia Yu. Abramycheva1 , Alla A. Shabalina1 , Sergey N. Illarioshkin1
1- Research Center of Neurology, 125367, Moscow, Russia.
Abstract:
Introduction: Frontotemporal dementia (FTD) is a heterogeneous group of diseases with complex clinical picture, including cognitive decline, behavioral and speech problems, psychiatric symptoms, parkinsonism, etc. Diagnosis of FTD is difficult 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 β-amyloid (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. Clinical phenotypes of these patients were detailed described. 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 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, in combination with other biomarkers, will help improve the diagnosis of the disease.
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 β-amyloid (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. Clinical phenotypes of these patients were detailed described. 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 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, in combination with other biomarkers, will help improve the diagnosis of the disease.
Type of Study: Original |
Subject:
Cellular and molecular Neuroscience
Received: 2023/08/10 | Accepted: 2024/07/29
Received: 2023/08/10 | Accepted: 2024/07/29
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