A5036990650- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Multiple Sclerosis Research Studies
- Neuroscience and Neuropharmacology Research
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Epilepsy research and treatment
- Genetics, Bioinformatics, and Biomedical Research
- Cardiac electrophysiology and arrhythmias
- Mitochondrial Function and Pathology
- Functional Brain Connectivity Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Cognitive Functions and Memory
- Cerebrospinal fluid and hydrocephalus
- Genetics and Neurodevelopmental Disorders
- Neurological disorders and treatments
- Craniofacial Disorders and Treatments
- Polyomavirus and related diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- Diet and metabolism studies
Oulu University Hospital
2011-2025
University of Oulu
2012-2025
University of Brescia
2024
University of Pavia
2024
Northern Ostrobothnia Hospital District
2019-2024
University of Eastern Finland
2024
Hertie Institute for Clinical Brain Research
2021-2023
University of Tübingen
2021-2023
Kiel University
2022-2023
University of Potsdam
2020
<h3>Objectives</h3> To study the safety and efficacy of vitamin D3 as an add on therapy to interferon β-1b (IFNB) in patients with multiple sclerosis (MS). <h3>Methods</h3> 1 year, double blind, placebo controlled, randomised 66 MS patients. The primary outcomes were T2 burden disease (BOD) MRI scans, proportion serum levels 25-hydroxyvitamin D (25(OH)D) ≥85 nmol/l or intact parathyroid hormone (PTH) ≤20 ng/l, number adverse events. Secondary enhancing T1 lesions new lesions, annual relapse...
Abstract We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with aim of describing clinical phenotypes related to effects. Six different subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); 2, intermediate 33, mild intellectual disability, partially pharmaco-responsive); 3, developmental epileptic...
Diagnostic incidence data for syndromes associated with frontotemporal lobar degeneration (FTLD) in multinational studies are urgent light of upcoming therapeutic approaches.To assess the FTLD across Europe.The Frontotemporal Dementia Incidence European Research Study (FRONTIERS) was a retrospective cohort study conducted from June 1, 2018, to May 31, 2019, using population-based registry 13 tertiary research clinics UK, Netherlands, Finland, Sweden, Spain, Bulgaria, Serbia, Germany, and...
Accumulation of amyloid-β is a key neuropathological feature in brain Alzheimer's disease patients. Alterations cerebral haemodynamics, such as arterial impulse propagation driving the (peri)vascular CSF flux, predict future progression. We now present non-invasive method to quantify three-dimensional cardiovascular impulses human using ultrafast 10 Hz magnetic resonance encephalography. This technique revealed spatio-temporal abnormalities disease. The arrival latency and speed both...
Current epidemiologic data of early-onset dementia (EOD), characterized by the onset disease before age 65, are notably scarce.
Abstract Biomarkers sensitive to prodromal or early pathophysiological changes in Alzheimer’s disease (AD) symptoms could improve detection and enable timely interventions. Changes brain hemodynamics may be associated with the main clinical AD symptoms. To test this possibility, we measured variability of blood oxygen level-dependent (BOLD) signal individuals from three independent datasets (totaling 80 patients 90 controls). We detected a replicable increase BOLD populations, which...
In this paper, a new concept of extra-durable and sustainable wind turbine blades is presented. The two critical materials science challenges the development energy now are necessity to prevent degradation for several decades, and, on other side, provide solution recyclability sustainability blades. preliminary studies by DTU Wind, it was demonstrated that practically all typical blade mechanisms (e.g., coating detachment, buckling, spar cap/shell adhesive joint degradation, trailing edge...
Autoantibodies directed against the GluA3 subunit (anti-GluA3 hIgGs) of AMPA receptors have been identified in 20%–25% patients with frontotemporal lobar degeneration (FTLD). Data from and vitro/ex vivo pre-clinical studies indicate that anti-GluA3 hIgGs negatively affect glutamatergic neurotransmission. However, whether how chronic presence triggers synaptic dysfunctions appearance FTLD-related neuropathological behavioural signature has not clarified yet. To address this question, we...
Frontotemporal dementia (FTD) covers a spectrum of neurodegenerative disorders with various clinical and neuropathological subtypes. The two major pathological proteins accumulating in the brains FTD patients, depending on their genetic background, are TDP-43 tau. We aimed to evaluate whether total levels measured from serum associate genotype or phenotype patients provides prognostic diagnostic value disorders. study cohort included 254 participants diagnosis (including all genotypes...
ABSTRACT Background The treatment of relapsing‐remitting multiple sclerosis (RRMS) is changing. There are limited data about initial RRMS in Finland. Objective Our objectives were to study the trends disease‐modifying treatments (DMTs) for patients with from 2013 2022, delays, factors associated DMT choice, switch patterns, and effect COVID‐19 pandemic. Methods This retrospective register used secondary Finnish MS register. DMTs classified into medium‐efficacy (meDMTs; beta interferons,...
Alzheimer's disease (AD) is characterized by specific neuropathologies, and associated with arterial wall β-amyloid accumulations, which lead to radiologically detectable amplitude increases variable propagation speed of cardiovascular impulses in brain. In this study, we developed a fast frequency domain imaging method know as relative harmonic power magnetic resonance encephalography (MREG RHP ), aiming investigate the configuration independently mean signal intensity physiological impulse...
ABSTRACT Introduction Literature on criminal behavior preceding a neurodegenerative disease diagnosis is insufficient. Some studies suggest increased crime rates among patients with frontotemporal dementia (FTD). Methods Patients diseases were gathered from Kuopio and Oulu University Hospitals compared nonselective general population data Statistics Finland ( N = 24,144). Clinical linked to the Finnish national register of police‐reported crimes. Results In total, 2424 participants included....
Abstract Common variants within TMEM106B are associated with risk for frontotemporal lobar degeneration TDP-43 pathology (FTLD-TDP). The G allele of the top single nucleotide polymorphism, rs1990622, confers protection against FTLD-TDP, including genetic cases due to GRN mutations or C9orf72 hexanucleotide repeat expansions. However, effects interaction between TMEM106B-rs1990622 and dementia (FTD) on disease endophenotypes in FTD unknown. This longitudinal cohort study was embedded GENetic...
Abstract Biallelic loss-of-function variants in TYROBP and TREM2 cause autosomal recessive presenile dementia with bone cysts known as Nasu-Hakola disease (NHD, alternatively polycystic lipomembranous osteodysplasia sclerosing leukoencephalopathy, PLOSL). Some other contribute to the risk of Alzheimer’s (AD) frontotemporal dementia, while deleterious are globally extremely rare their role neurodegenerative diseases remains unclear. The population history Finns has favored enrichment founder...
ABSTRACT Extracellular vesicles (EVs), nanoparticles secreted by both gram-negative and gram-positive bacteria, carry various biomolecules cross biological barriers. Gut microbiota-derived EVs are currently being investigated as a communication mechanism between the microbiota host. Few clinical studies, however, have gut EVs. Here, we show that machine learning models were able to accurately distinguish respective EV samples according their taxonomic composition within each data set (area...
Abstract Background Frontotemporal lobar degeneration (FTLD) consists of a clinically and neuropathologically heterogeneous group syndromes affecting the frontal temporal lobes brain. Mutations in microtubule-associated protein tau ( MAPT ), progranulin PGRN ) charged multi-vesicular body 2B CHMP2B are associated with familial forms disease. The prevalence these mutations varies between populations. H1 haplotype has been found to be closely tauopathies sporadic FTLD. Our aim was investigate...
<h3>Objective:</h3> We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome <i>SAMD9L</i> mutations. <h3>Methods:</h3> Members these families germline c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews neurologic examinations. Neuroimaging was performed, medical records were reviewed. Previous publications on <i>SAMD9L</i>-ATXPC...
De novo missense variants in KCNQ5, encoding the voltage-gated K+ channel KV7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out identify disease-related KCNQ5 genetic generalized epilepsy (GGE) their underlying mechanisms.1292 families with GGE were studied by next-generation sequencing. Whole-cell patch-clamp recordings, biotinylation phospholipid overlay assays performed mammalian cells combined homology...
Abstract Biallelic loss-of-function variants in TYROBP and TREM2 cause autosomal recessive presenile dementia with bone cysts known as Nasu-Hakola disease (NHD, alternatively polycystic lipomembranous osteodysplasia sclerosing leukoencephalopathy, PLOSL). Some other contribute to the risk of Alzheimer’s (AD) frontotemporal dementia, while deleterious are globally extremely rare their role neurodegenerative diseases remains unclear. The population history Finns has favored enrichment founder...
Mitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders. Previous studies also provided controversial results on association mtDNA haplogroups susceptibility to Alzheimer's disease (AD), but possible relationships between frontotemporal lobar degeneration (FTLD) less frequently studied.We analysed role its maintenance enzymes 128 early-onset AD (eoAD) 66 FTLD cases....
Only a few studies have evaluated modifiable risk factors for frontotemporal dementia (FTD). Here, we several and their association with disease phenotype, genotype, prognosis in large study population including Finnish Italian patients FTD control groups.
Background and purpose: Mutations in the progranulin ( PGRN ) gene have recently been associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations varies between populations. aim this study was to determine genetic variations Finnish patients FTLD motor neuron disease (FTLD‐MND). Subjects methods: All exons were sequenced from 69 FTLD. FTLD‐MND phenotype present 13 patients. Results: No pathogenic identified cohort. Eleven sequence detected, which IVS8 +...