A5044779792- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Forensic and Genetic Research
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Genetic Associations and Epidemiology
- Forensic Anthropology and Bioarchaeology Studies
- Molecular Biology Techniques and Applications
- Protein Tyrosine Phosphatases
- Genomics and Rare Diseases
- Child and Adolescent Health
- Muscle Physiology and Disorders
- Race, Genetics, and Society
- Trace Elements in Health
- DNA Repair Mechanisms
- Cannabis and Cannabinoid Research
- Neurology and Historical Studies
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Microbial Metabolism and Applications
- Autoimmune Neurological Disorders and Treatments
- 14-3-3 protein interactions
- Environmental DNA in Biodiversity Studies
University of Belgrade
2012-2025
Institute of Public Health of Serbia
1996-2020
Waseda University
2018
Center for Human Genetics
2016
<i>Background:</i> The aim of this study was to determine prevalence and 15-year survival in Charcot-Marie-Tooth disease (CMT). <i>Methods:</i> covers the period from 1 January 1988 31 December 2007 territory Belgrade. Data on a number CMT-affected persons their basic demographic characteristics as well data were collected medical records. course outcome obtained through direct contact with patients, families physicians. <i>Results:</i> We registered 161...
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, state if the question would be reported as a relevant result or not measure of utility. In contrast system, system was made guide reporting but determine likelihood pathogenicity. Nevertheless, this comparison is justified since class determines many laboratories. Forty-three participated survey. seven cases, used did...
The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among ethnic groups, presumably due to a founder effect. We investigated the prevalence SCA1-3, 6-8, 12, 17; dentate-rubro-pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years age) hereditary sporadic SCAs, compared clinical features genetically confirmed SCAs. A total 108 from 54 families (38 apparently dominant [ADCA] 16 recessive) 75 were assessed. Of 38 ADCA,...
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin most cases. Here we report novel P66S mutation exon 3 the SOD1 gene an apparently sporadic ALS patient with unusual early onset and rapid progression. Our data widen spectrum mutations clinical presentations ALS.
Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive causally associated with untranslated CTG repeat expansion on chromosome 13q21. However, the role of in SCA8 pathology not yet well understood. Therefore, we studied length CTA/CTG expansions (combined repeats, CRs) 115 patients ataxia, 64 unrelated individuals non-triplet neuromuscular diseases, 70 schizophrenia, and 125 healthy controls. Only one patient apparently sporadic was identified an 100 CRs. He had inherited from his...
We report the results of mutational analysis in following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE 57 Charcot-Marie-Tooth (CMT) patients Serbian origin without PMP22 duplication. found 10 different mutations 14 CMT patients: 6 3 1 PMP22. Five six GJB1 are reported for first time, most frequent one appears to be a founder mutation population. No were EGR2 or LITAF. Thus, should done duplication male-to-male transmission CMT.
Huntington disease (HD) is a well-defined autosomal dominant neurodegenerative caused by CAG repeat expansions in HD gene. There are significant number of cases where this mutation was not found and such named HD-like phenotype (HDL). This article reports 48 patients with HDL phenotype. Patients were analyzed on the presence mutations prion (PrP), ferritin junctophilin-3 (JP-3) genes. None showed could suggest that there some other gene/genes can cause clinical features HD.
Apolipoprotein E (APOE) gene variants are associated with alterations in brain function and increased risk of Alzheimer's disease (AD) conflicting results have been reported schizophrenia. Our showed no significant differences APOE allele or genotype frequencies between the Serbian schizophrenic patients control individuals. However, we observed a possible association particular subtypes schizophrenia ε3/ε3 (p = .01221) ε4 tendency toward positive responding to typical neuroleptics....
Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline poor prognosis. LD caused mutations either in the EPM2A or NHLRC1 genes. Here we report clinical genetic findings on 14 patients from 10 families of Serbian/Montenegrin origin. Molecular diagnostics was performed sequencing coding regions In addition, haplotype analysis chromosomes carrying two most frequent (c.1048-1049delGA...
Saitohin (STH) is located in the intron of human gene for microtubule-associated protein tau. Q7R polymorphism has been identified STH gene. Some neurodegenerative disorders were found to be associated with presence certain allele. This study genotyped 37 subjects diagnosis Huntington's disease, but lacking mutations HD, PRNP, JPH-3, and FTL genes polymorphism. It was determined that Q allele over-represented a tested group patients (P > Pt). Over-representation might considered as genetic...
Unverricht-Lundborg disease (ULD) is an autosomal recessive disorder caused by dodecamer repeat expansion in the promoter region of cystatin B (CSTB) gene approximately 90% alleles worldwide. This study presents results genetic findings four Serbian unrelated patients with clinical and molecular diagnosis ULD. Using newly established PCR protocol betaine, we detected a homozygous repeats CSTB Our are agreement previous studies showing that most common mutation associated Haplotype analysis...
Charcot-Marie Tooth (CMT) is a clinically and genetically heterogeneous group of diseases with rough genotype-phenotype correlation, so the final diagnosis requires extensive clinical electrophysiological examination, family data, gene mutation analysis. Although there common pattern genetic basis CMT, could be some population differences that should taken into account to facilitate analyses. Here we present algorithm for testing in Serbian patients demyelinating based on their...