A5067111738- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Neurological Disorders and Treatments
- Folate and B Vitamins Research
- Bioinformatics and Genomic Networks
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetic Associations and Epidemiology
- S100 Proteins and Annexins
- Nuclear Receptors and Signaling
- Cholinesterase and Neurodegenerative Diseases
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Genomics and Rare Diseases
- GDF15 and Related Biomarkers
- Cerebrovascular and Carotid Artery Diseases
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Diet and metabolism studies
- Metabolism and Genetic Disorders
- Neurological Disease Mechanisms and Treatments
Polish Academy of Sciences
2012-2022
Mossakowski Medical Research Institute, Polish Academy of Sciences
2012-2022
Central Clinical Hospital
2007-2022
Wroclaw Medical University
2018
Mayo Clinic in Florida
2003-2015
Jagiellonian University
2015
Medical University of Silesia
2004-2015
NorthShore University HealthSystem
2015
Mater Misericordiae University Hospital
2015
New Chemical Syntheses Institute
2013
Abstract Background A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 ( TREM2 ) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Given key role of effective phagocytosis apoptotic neuronal microglia, we hypothesized that dysfunction may play more generalized neurodegeneration. With this mind set out assess association disease-related (rs75932628, p.R47H) with other related neurodegenerative...
Abstract Background Mild cognitive impairment (MCI) is a condition referring to the persons with deficits measurable in some form or another, but not meeting criteria for dementia, and who have an increased risk of becoming demented. Objective To establish rate progression dementia MCI, investigate conversion amnestic vs multiple‐domains subtypes, identify predictors progression. Methods MCI ( n = 105) individuals enrolled longitudinal study received annual clinical psychometric examinations...
Frontotemporal lobar degeneration (FTLD) is the most common cause of early-onset dementia. Pathological ubiquitinated inclusion bodies observed in FTLD and motor neuron disease (MND) comprise trans-activating response element (TAR) DNA binding protein (TDP-43) and/or fused sarcoma (FUS) protein. Our objective was to identify causative gene an FTLD-MND pedigree with no mutations known dementia genes.A mutation screen candidate genes, luciferase assays, quantitative polymerase chain reaction...
The aim of the study was to detect prevalence depressive syndromes and symptoms in sample elderly persons with Mild Cognitive Impairment (MCI), analyse Montgomery-Asberg Depression Rating (MADRS) item scores.The subjects were 102 consecutive out-patients MCI. All assessed by an experienced psychiatrist MADRS applied. Major minor episodes defined according DSM-IV criteria. Factor analysis used baseline scores.Three patient groups emerged distribution severity scores basis: those major...
Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.We performed largest multi-center study to ascertain frequency and pathogenicity reported more than 15,000 individuals worldwide. p.Asp620Asn was detected 5 familial 2 sporadic PD cases not healthy controls, p.Leu774Met 6 1 control,...
Improving accuracy of the available predictive DNA methods is important for their wider use in routine forensic work. Information on age process identification an unknown individual may provide hints that can speed up investigation. methylation markers have been demonstrated to accurate estimation forensics, but there growing evidence be modified by various factors including diseases. We analyzed profile five from different genes (ELOVL2, C1orf132, KLF14, FHL2, and TRIM59) used prediction...
Recent genome-wide association studies (GWAS) of late-onset Alzheimer's disease (LOAD) have identified single nucleotide polymorphisms (SNPs) which show significant at the well-known APOE locus and nineteen additional loci. Among functional, disease-associated variants these loci, missense are particularly important because they can be readily investigated in model systems to search for novel therapeutic targets. It is now possible perform a low-cost "actionable" by genotyping known LOAD...
Abstract We used Mössbauer spectroscopy to study the iron content, redox state, and binding site of in substantia nigra (SN) from parkinsonian (PD) control brains. Measurements performed on fresh‐frozen, formalin‐fixed, lyophilized samples demonstrated presence ferric (Fe 3+ ) only, both PD SN. Ferrous iron, if present at all, may represent most 5% total iron. found no difference amount SN between The spectra observed 4.1 K fresh (frozen or lyophilized) were different those obtained...
Alzheimer's disease (AD) is the most common dementia disorder in elderly people. Currently, only known genetic factor associated with development of sporadic AD apolipoprotein E (ApoE) 4 allele. There a need to identify other environmental and risk factors that could modulate developing AD.To analyse correlation between ApoE methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism plasma homocysteine levels vitamins (B(12) folic acid) concentrations serum from patients mild cognitive...
A recently published genome-wide association study (GWAS) of late-onset Alzheimer's disease (LOAD) revealed significant variants in or near MS4A4A, CD2AP, EPHA1 and CD33. Meta-analyses this a previously GWAS at ABCA7 MS4A, independent evidence for CD33 an opposing yet variant ARID5B. In study, we genotyped five (in EPHA1, ARID5B, CD33) large (2,634 LOAD, 4,201 controls), dataset comprising six case-control series from the USA Europe. We performed meta-analyses these with LOAD tested using...
In order to study oxidative stress in peripheral cells of Alzheimer's disease (AD) patients, immortalized lymphocytes derived from two peculiar cohorts referring early onset AD (EOSAD) and subjects harboured related mutation (ADmut), were used. Oxidative was evaluated measuring i) the typical markers, such as HNE Michel adducts, 3 Nitro-Tyrosine residues protein carbonyl on extracts, ii) antioxidant capacity, following enzymatic kinetic superoxide dismutase (SOD), glutathione peroxidase...
<h3>Objective:</h3> To assess the role of <i>CHCHD2</i> variants in patients with Parkinson disease (PD) and Lewy body (LBD) Caucasian populations. <h3>Methods:</h3> All exons gene were sequenced a US patient-control series (878 PD, 610 LBD, 717 controls). Subsequently, 1 2 an Irish (355 PD 365 controls) Polish (394 350 Immunohistochemistry immunofluorescence studies performed on pathologic LBD cases rare variants. <h3>Results:</h3> We identified 9 exonic unknown significance. These more...
Summary The aim of our study was to analyze EEG changes in patients with Alzheimer disease (AD) and determine how closely reflects the progression mental impairment people AD. Ninety-five probable AD according National Institute Neurological Communicative Disorders Stroke/Alzheimer's Disease Related Association criteria treated Clinic for Memory were selected this study. Patients divided into three subgroups mild, marked, severe dementia results psychometric scales. findings classified using...