Browsing by Author "Mandić-Stojmenović, Gorana (55780903300)"

Background/Aim. In accordance with modern trends of organizing specialized service dealing with dementia, the first memory clinic in Serbia - Center for memory disorders and dementia was established in 2008 in Belgrade at Neurology Clinic - Clinical Center of Serbia (CCS) as a university-affiliated outpatient clinic for subjects with cognitive impairment and dementia. The aim of this report was to outline the frequency of diagnosis, sociodemographic and medical characteristics of patients referring to the Center for memory disorders and dementia. Methods. The sample consisted of patients registered between 2008 and 2016 who underwent comprehensive and specialized diagnostic procedures in the Center. Results. A total of 3,873 visits were made for 2,198 patients, 39.6% of which proceed to annually follow-up visits. The majority of the sample (65.3%) was women. The mean age was 69.8 ± 12.1 years (range 29-89 years) and the average education level was 12.1 ± 3.3 years. Of this total number, at the moment of the first visit, 44.4% of the patients were fulfill criteria for Mild cognitive impairment (MCI), 28.2% had dementia due to Alzheimer's disease (AD), 7.8% had dementia secondary to a vascular pathology (VaD), 7.3% had frontotemporal dementia (FTD), 0.6% had dementia with Lewy bodies (DLB), and 1.7% had dementia due to Parkinson's disease (PDD). The mean Mini Mental test score in the whole sample was 22.6 ± 6.8 points. Conclusion. The data collected through the activity of the Center enabled an insight into the demographic and medical characteristics of patients, as well as planning further activities in the health care system. The systemic introduction of more standardized diagnostic practices, establishing and networking of similar centers will improve the accuracy and rate of dementia diagnosis in the Serbian population. © 2020 Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.

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. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024.

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. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024.

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