A5060495212- Prion Diseases and Protein Misfolding
- Glioma Diagnosis and Treatment
- Neurological diseases and metabolism
- Meningioma and schwannoma management
- Trace Elements in Health
- Brain Metastases and Treatment
- Alcoholism and Thiamine Deficiency
- Folate and B Vitamins Research
- MicroRNA in disease regulation
- Pancreatic function and diabetes
- Peptidase Inhibition and Analysis
- Diabetes Management and Research
- Epigenetics and DNA Methylation
- Chronic Lymphocytic Leukemia Research
- CNS Lymphoma Diagnosis and Treatment
- Celiac Disease Research and Management
- Microtubule and mitosis dynamics
- Radiomics and Machine Learning in Medical Imaging
- Diabetes and associated disorders
- HER2/EGFR in Cancer Research
- Cell Adhesion Molecules Research
- RNA regulation and disease
- Lymphoma Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Neurogenesis and neuroplasticity mechanisms
Copenhagen University Hospital
2018-2025
Rigshospitalet
2016-2025
Ospedale Bellaria
2019
University of Bologna
2019
Istituto delle Scienze Neurologiche di Bologna
2019
Capital Region of Denmark
2016
Abstract Prions are assemblies of misfolded prion protein that cause several fatal and transmissible neurodegenerative diseases, with the most common phenotype in humans being sporadic Creutzfeldt-Jakob disease (sCJD). Aside from variation itself, molecular risk factors not well understood. Prion prion-like mechanisms thought to underpin disorders meaning elucidation could have broad relevance. Herein we sought further develop our understanding confer sCJD using a systematic gene...
Currently, early diagnosis of dementia with Lewy bodies (DLB) is based on clinical criteria, which challenging due to overlapping symptoms other neurodegenerative diseases. Seeding amplification assays, detecting minute amounts disease causing α-synuclein (αSynD), are emerging as a promising diagnostic tool for α-synucleinopathies including DLB and Parkinson's disease. This study aimed test whether the same seeding assay established αSynD detection in cerebrospinal fluid (CSF) could be...
Primary central nervous system lymphoma (PCNSL) is an aggressive variant of diffuse large B-cell (DLBCL) confined to the CNS. TP53 mutations (MUT-TP53) were investigated in context MIR34A/B/C- and DAPK promoter methylation status, associated with clinical outcomes PCNSL patients. In a total 107 patients data recorded, histopathology reassessed, genetic epigenetic aberrations p53-miR34-DAPK network studied. mutational status (exon 5–8), structural classification single nucleotide variations...
OBJECTIVE Meningioma is the most common primary intracranial neoplasm. Only 1%–3% of meningiomas are malignant according to 2016 WHO criteria (WHO grade III). High-grade present specific gene expression signatures indicating aggressive growth or recurrence. However, changes in and neuroinflammatory III during progression from I II unknown. METHODS The authors used a NanoString targeted panel with focus on 787 genes relevant meningioma pathology pathways investigate patients treated at...
Octapeptide repeat insertions (OPRI) found in the prion protein gene (PRNP) constitute a subgroup of pathogenic mutations linked to inherited diseases, hallmark which is misfolded protein. The number repeats OPRI has been associated with different disease phenotypes. However, due rarity cases and heterogenous manifestations, recognition classification these variants difficult. Here, we report first Danish family, fifth worldwide, carrying novel 8-OPRI unique sequence additional 8 inserts:...
Human prion diseases are rare, transmissible and often rapidly progressive dementias. The most common type, sporadic Creutzfeldt-Jakob disease (sCJD), is highly variable in clinical duration age at onset. Genetic determinants of late onset or slower progression might suggest new targets for research therapeutics. We assembled array genotyped sCJD cases diagnosed life autopsy. Clinical (median:4, interquartile range (IQR):2.5–9 (months)) was available 3,773 (median:67, IQR:61–73 (years))...
Neuroinflammation is an essential part of neurodegeneration. Yet, the current understanding neuroinflammation-associated molecular events in distinct brain regions prion disease patients insufficient to lay ground for effective treatment strategies targeting this complex neuropathological process. To address problem, we analyzed expression 800 genes create a profile biological processes taking place frontal cortex and cerebellum who suffered from sporadic Creutzfeldt–Jakob disease. The...
Prion diseases are extremely rare neurodegenerative diseases. They characterized by a rapid decline with an invariably fatal outcome and clinically complex to diagnose because presentation varies. We present patient suffering from sporadic insomnia (sFI), subtype of Creutzfeldt-Jakob disease (sCJD), initial symptoms parkinsonism, abnormal dopamine transporter imaging, only minor sleep disturbances. A characteristic 2-[18F] Fluoro-2-deoxy-D-glucose positron emission tomography ([18F]FDG PET)...
This is the first report of presumed sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Sträussler-Scheinker (GSS) with prion protein gene c.305C>T mutation (p.P102L) occurring in one family. The father son were affected GSS mother had a rapidly progressive form CJD. Diagnosis genetic, variant, iatrogenic CJD was ruled out based on mother's clinical history, genetic tests, biochemical investigations, all which supported diagnosis sCJD. However, given low incidence sCJD GSS, their...
Cerebrospinal fluid-based real-time quaking-induced conversion (CSF RT-QuIC) is currently the most prominent method for early detection of sporadic Creutzfeldt–Jakob disease (sCJD), common prion disease. CSF RT-QuIC delivers high sensitivity (>90%) and specificity (100%), which has been demonstrated by large ring-trial studies testing probable definitive sCJD cohorts. Following inclusion in revised European CJD Surveillance Network diagnostic criteria sCJD, it become a standard procedure...
Abstract The purpose of this study was to perform an updated reclassification all definite prion disease cases with available fresh-frozen samples referred the Danish Reference Center over past 40 years, putting a special emphasis on molecular characterization novel subtypes. Investigation diseases cohort revealed rare sporadic Creutzfeldt-Jakob mixed subtypes and previously uncharacterized white matter plaques, new case fatal insomnia, 3 mutations, including 2 large octapeptide repeat...
Tumor progression and response to treatment are highly affected by interactions between cancer cells the tumor microenvironment (TME). Many of soluble factors signaling receptors involved in this crosstalk shed a disintegrin metalloproteinases (ADAMs). Upregulation ADAM15 has been linked worse survival patients tumor-promoting function both vitro murine models. Although cell-cell cell-extracellular matrix interactions, its role TME vivo remains unexplored. Therefore, we aimed understand how...
Variably protease-sensitive prionopathy (VPSPr) is a recently characterised rare subtype of sporadic prion disease, mainly affecting individuals with valine homozygosity at codon 129 in the protein gene, only seven methionine homozygote cases reported to date. This case presents clinical, neuropathological and biochemical features eighth VPSPr worldwide compares formerly presented cases.The patient, woman her 70s, cognitive decline, impaired balance frequent falls. Medical history clinical...
Abstract Glioblastoma remains one of the deadliest brain malignancies. First-line therapy consists maximal surgical tumor resection, accompanied by concomitant and adjuvant temozolomide chemotherapy radiotherapy. Malignant cells escape resection migrating into parenchyma, where they give rise to recurrent tumor. Based on gene expression, core can be subtyped mesenchymal, proneural classical areas, each being associated with differences in genetic alterations cellular composition. In...
Abstract Prions are assemblies of misfolded prion protein that cause several fatal and transmissible neurodegenerative diseases, with the most common phenotype in humans being sporadic Creutzfeldt-Jakob disease (sCJD). Aside from variation itself, molecular risk factors not well understood. Prion prion-like mechanisms thought to underpin disorders meaning elucidation could have broad relevance. Herein we sought further develop our understanding confer sCJD using a systematic gene...
Abstract Glioblastoma remains one of the deadliest brain malignancies. First-line therapy consists maximal surgical tumor resection, chemotherapy, and radiotherapy. Malignant cells escape resection by migrating into surrounding healthy tissue, where they give rise to recurrent tumor. Gene expression profiling allows glioblastoma cores be classified mesenchymal, proneural, classical subtypes, each with distinct genetic alterations cellular compositions. In contrast, adjacent parenchyma...
Abstract Purpose Type 1 Diabetes (T1D) pathogenesis involves immune cells infiltrating pancreatic Islets of Langerhans, leading to T cell activation, beta destruction, and impaired insulin production. However, infiltration has a heterogenic nature that isn’t described in detail, as not all islets are infiltrated. The aim this study was investigate if the observed heterogeneity is coupled differences and/or dysfunctional status or exocrine cells, specific markers could elucidate mechanistic...
In the present manuscript, we report clinical presentation and challenging diagnostic work-up of a sporadic Creutzfeldt-Jakob disease patient with confirmed VV1 subtype heterozygous 1-octapeptide repeat deletion in prion protein gene. The described was 58-year-old woman. Interestingly, most reported patients to date are men an average age 44 years at onset. observed clinically from symptoms onset until her death 22 months later. This describes patient's insidious evolution paraclinical...
Abstract Human prion diseases are rare, transmissible and often rapidly progressive dementias. The most common type, sporadic Creutzfeldt-Jakob disease (sCJD), is highly variable in clinical duration age at onset. Genetic determinants of late onset or slower progression might suggest new targets for research therapeutics. We assembled array genotyped sCJD cases diagnosed life autopsy. Clinical (median:4, interquartile range (IQR):2.5-9 (months)) was available 3,773 (median:67, IQR:61-73...
Abstract Background Malignant meningiomas comprise 2–5% of all meningiomas. The process malignant transformation when benign (WHO grade I-II) become III) has not previously been investigated in sequential tumour surgeries. Upregulation FOXM1 expression and DREAM-complex repression have shown phenotypical subgroups correlating with WHO aggressiveness. We the RNA 30 genes central to meningioma biology 770 involved neuroinflammatory pathways primary secondary patients who underwent one several...
Abstract BACKGROUND Malignant meningiomas comprise 2–5% of all meningiomas. The process malignant transformation when benign (WHO grade I-II) become III) has not previously been investigated in sequential tumour surgeries. Upregulation FOXM1 expression and DREAM-complex repression have shown phenotypical subgroups correlating with WHO aggressiveness. We the RNA 30 genes central to meningioma biology 770 involved neuroinflammatory pathways primary secondary patients who underwent one several...