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

Most 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...

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Bibliographic Details
Published in:Neurogenetics 2024-07, Vol.25 (3), p.193-200
Main Authors: Stefanova, Elka, Marjanović, Ana, Dobričić, Valerija, Mandić-Stojmenović, Gorana, Stojković, Tanja, Branković, Marija, Šarčević, Maksim, Novaković, Ivana, Kostić, Vladimir S.
Format: Article
Language:English
Subjects:
Alzheimer's disease
Chromosome 9
Dementia
Dementia disorders
Frontotemporal dementia
Gene frequency
Heritability
Human Genetics
Immunological memory
Medicine
Medicine & Public Health
Memory
Molecular Medicine
Neurodegenerative diseases
Neurology
Neurosciences
Original Article
Tau protein
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Summary:Most 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.
ISSN:1364-6753
1364-6745
1364-6753
DOI:10.1007/s10048-024-00766-8