A5044713299- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Metabolomics and Mass Spectrometry Studies
- Alzheimer's disease research and treatments
- Advanced Chemical Sensor Technologies
- Biochemical Acid Research Studies
- Mitochondrial Function and Pathology
- Spectroscopy and Chemometric Analyses
- Prion Diseases and Protein Misfolding
- Neuroinflammation and Neurodegeneration Mechanisms
- NF-κB Signaling Pathways
- biodegradable polymer synthesis and properties
- Multiple Sclerosis Research Studies
- Cholinesterase and Neurodegenerative Diseases
- Diet, Metabolism, and Disease
- Genomics, phytochemicals, and oxidative stress
- Histone Deacetylase Inhibitors Research
- Neuroscience and Neuropharmacology Research
- Adipose Tissue and Metabolism
- Bone Metabolism and Diseases
- Alcohol Consumption and Health Effects
Uppsala University Hospital
2024
Uppsala University
2022
Umeå University
2011-2021
Lillebaelt Hospital
2020
Slagelse Hospital
2020
Odense University Hospital
2020
University of Southern Denmark
2020
Spectral Energies (United States)
2016
AstraZeneca (Sweden)
2006
Parkinson's disease (PD) is a progressive, multi-focal neurodegenerative for which there no effective modifying treatment. A critical requirement designing successful clinical trials the development of robust and reproducible biomarkers identifying PD in preclinical stages.
Schematic view of the study design and mass spectrometry platforms used for metabolomics analysis.
A GGGGCC-repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasians. However, little known about variability GGGGCC different tissues whether this correlates with observed phenotype. Here, we used Southern blotting to estimate size hexanucleotide expansions neural non-neural from 18 autopsied ALS FTD patients repeat blood. Digitalization blot images allowed comparison number, smear distribution band...
Abstract Delayed diagnosis and misdiagnosis are frequent in people with amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease (MND). Neurofilament light chain (NFL) phosphorylated neurofilament heavy (pNFH) elevated ALS patients. We retrospectively quantified cerebrospinal fluid (CSF) NFL, CSF pNFH plasma NFL stored samples that were collected at diagnostic work-up patients (n = 234), mimics 44) controls 9). assessed performance, prognostication value relationship...
A method for predictive metabolite profiling based on resolution of GC−MS data followed by multivariate analysis is presented and applied to three different biofluid sets (rat urine, aspen leaf extracts, human blood plasma). Hierarchical curve (H-MCR) was used simultaneously resolve the into pure profiles, describing relative concentrations between samples, analysis. Here, we present an extension H-MCR allowing treatment independent samples according processing parameters estimated from a...
Background/Aim The changes in the cerebrospinal fluid (CSF) metabolome associated with fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS) are poorly understood and earlier smaller studies have shown conflicting results. metabolomic methodology is suitable for screening large cohorts of samples. Global metabolomics can be used detecting metabolite concentrations samples fluids such as CSF. Methodology Using gas chromatography coupled to mass spectrometry (GC/TOFMS)...
Analytical drift is a major source of bias in mass spectrometry based metabolomics confounding interpretation and biomarker detection. So far, standard protocols for sample data analysis have not been able to fully resolve this. We present combined approach minimizing the influence analytical on multivariate comparisons matched or dependent samples studies. The building randomization procedure run order, constrained independent randomizations between within pairs (e.g. pre/post...
Inflammatory mediators have crucial roles in leukocyte recruitment and subsequent central nervous system (CNS) neuroinflammation. The extent of neuronal injury axonal loss are associated with the degree CNS inflammation determine physical disability multiple sclerosis (MS). aim this study was to explore possible associations between a panel selected cerebrospinal fluid biomarkers robust clinical demographic parameters large cohort patients MS controls (n = 1066) using data-driven...
<h3>Objective</h3> To investigate inflammatory cytokines in patients with motor neuron disease (MND) evaluating the putative contribution of amyotrophic lateral sclerosis (ALS)-causing gene variants. <h3>Methods</h3> This study is a retrospective case series prospective follow-up (1994–2016) 248 MND, whom 164 had ALS who were screened for mutations genes <i>SOD1</i> and <i>C9orf72</i>. Paired CSF plasma collected at diagnostic evaluation before treatment. A panel measured blindly via digital...
Abstract The neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and Parkinson’s disease (PD) share some common molecular deficits including disruption of protein homeostasis leading to disease-specific aggregation. While insoluble aggregates are the defining pathological confirmation diagnosis, patient stratification based on early etiologies may identify distinct subgroups within a clinical diagnosis that would respond differently in therapeutic development programs. We...
High plasma levels of cholesterol have been suggested to be neuroprotective for the degenerative disease amyotrophic lateral sclerosis (ALS) and associated with increased survival time. The gene encoding 27-hydroxylase, CYP27A1, was recently identified as a susceptibility sporadic ALS. A product this enzyme is 27-hydroxycholesterol. We investigated samples from 52 ALS patients 40 control subjects (spouses) regarding homeostasis, lipid profiles, coenzyme Q. Eleven carried mutations in C9orf72...
There is a need for biomarkers early diagnosis, development and evaluation of treatment efficacy in amyotrophic lateral sclerosis (ALS). We aimed to investigate if pre-analytical factors induce artefacts metabolomic data cerebrospinal fluid (CSF) from patients with ALS. CSF 16 was studied using statistical experimental design protocol the following parameters: storage temperature (−80°C/ − 20°C), type collection tube (polypropylene/polystyrene), time delay collecting freezing (0, 10, 30, 90,...
A large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD European populations. Sequence variations immediately downstream HREM region have previously been observed suggested to be one reason for difficulties interpreting RP-PCR data. Our objective was determine properties these sequence with regard prevalence, range variation, effect on disease prognosis. We screened a multi-national cohort (n = 6981) samples deviant curves were identified. The...
Mutations in the superoxide dismutase (SOD1) gene have been linked to amyotrophic lateral sclerosis (ALS). A 50 base pair (bp) deletion of SOD1 has suggested reduce transcription and be associated with later disease onset ALS. This study was aimed reveal if bp influenced enzymatic activity, occurrence phenotype a Swedish ALS/control cohort. Blood samples from 512 ALS patients 354 controls without coding mutations were analysed for allele. The activity erythrocytes genotype-phenotype...
Abstract Short tandem repeat expansions in the human genome are overrepresented a variety of neurological disorders. It was recently shown that huntingtin (HTT) with full penetrance, i.e. 40 or more CAG repeats, which normally cause Huntington’s disease (HD), patients amyotrophic lateral sclerosis (ALS). Whether carrying HTT reduced (36–39 repeats), alleles intermediate (27–35 have an increased risk ALS has not yet been investigated. Here, we examined role motor neuron (MND) cohort, searched...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative syndrome hallmarked by adult-onset degeneration of upper and lower motor neurons their associated tracts. ALS may be difficult to differentiate from some other neurological disorders termed mimics estimate prognosis. Methods We retrospectively measured the concentrations neurofilaments (NFs) cytokines in cerebrospinal fluid (CSF) plasma patients ( n = 234) 44), assess association diagnosis prognosis...