Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center

Stefanova, Elka (7004567022)Elka (7004567022)StefanovaMarjanović, Ana (56798179100)Ana (56798179100)MarjanovićDobričić, Valerija (22952783800)Valerija (22952783800)DobričićMandić-Stojmenović, Gorana (55780903300)Gorana (55780903300)Mandić-StojmenovićStojković, Tanja (57211211787)Tanja (57211211787)StojkovićBranković, Marija (58122593400)Marija (58122593400)BrankovićŠarčević, Maksim (58024394900)Maksim (58024394900)ŠarčevićNovaković, Ivana (6603235567)Ivana (6603235567)NovakovićKostić, Vladimir S. (35239923400)Vladimir S. (35239923400)Kostić2025-07-022025-07-022024https://doi.org/10.1007/s10048-024-00766-8https://www.scopus.com/inward/record.uri?eid=2-s2.0-85195429151&doi=10.1007%2fs10048-024-00766-8&partnerID=40&md5=4c17201c2f674a77b1e0a98dae4b4725https://remedy.med.bg.ac.rs/handle/123456789/11627Most of the heritability in frontotemporal dementia (FTD) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (C9orf72), pathogenic/likely pathogenic variants in progranulin (GRN), and microtubule-associated protein tau (MAPT) genes. Until now, there has been no systematic analysis of these genes in the Serbian population. Herein, we assessed the frequency of the C9orf72 expansion, pathogenic/likely pathogenic variants in GRN and MAPT in a well-characterized group of 472 subjects (FTD, Alzheimer’s disease - AD, mild cognitive impairment - MCI, and unspecified dementia - UnD), recruited in the Memory Center, Neurology Clinic, University Clinical Center of Serbia. The C9orf72 repeat expansion was detected in 6.98% of FTD cases (13.46% familial; 2.6% sporadic). In the UnD subgroup, C9orf72 repeat expansions were detected in 4.08% (8% familial) individuals. Pathogenic variants in the GRN were found in 2.85% of familial FTD cases. Interestingly, no MAPT pathogenic/likely pathogenic variants were detected, suggesting possible geographical specificity. Our findings highlight the importance of wider implementation of genetic testing in neurological and psychiatric practice managing patients with cognitive-behavioral and motor symptoms. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024.Alzheimer’s dementiaFrontotemporal dementiaGeneticsHeritabilityMild cognitive impairmentUnspecified dementiaFrequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center