Fabrizio Tagliavini
A5004166000- Prion Diseases and Protein Misfolding
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Trace Elements in Health
- Parkinson's Disease Mechanisms and Treatments
- Computational Drug Discovery Methods
- Alcoholism and Thiamine Deficiency
- Cholinesterase and Neurodegenerative Diseases
- Functional Brain Connectivity Studies
- RNA regulation and disease
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Advanced Neuroimaging Techniques and Applications
- Mitochondrial Function and Pathology
- Neurological Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Bioinformatics and Genomic Networks
- Amino Acid Enzymes and Metabolism
- Intracerebral and Subarachnoid Hemorrhage Research
- Infectious Encephalopathies and Encephalitis
- Cerebrovascular and genetic disorders
- Health, Environment, Cognitive Aging
- Neuroinflammation and Neurodegeneration Mechanisms
- Advanced MRI Techniques and Applications
Fondazione IRCCS Istituto Neurologico Carlo Besta
2016-2025
University of Verona
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2023
Agenzia Regionale per la Protezione Ambientale
2022-2023
Medical University of Warsaw
2023
University Hospital Cologne
2023
University of Cologne
2023
Federico II University Hospital
2023
Weatherford College
2022
Vita-Salute San Raffaele University
2022
Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about third of patients, the disease caused by autosomal dominant genetic mutations usually in one three genes: progranulin (GRN), microtubule-associated protein tau (MAPT), or chromosome 9 open reading frame 72 (C9orf72). Findings from studies other dementias have shown neuroimaging and cognitive changes before symptoms onset, we aimed to identify whether such could be frontotemporal dementia.
Transmissible spongiform encephalopathies (TSEs), or prion diseases, are mammalian neurodegenerative disorders characterized by a posttranslational conversion and brain accumulation of an insoluble, protease-resistant isoform (PrP Sc ) the host-encoded cellular protein C ). Human animal TSE agents exist as different phenotypes that can be biochemically differentiated on basis molecular mass PrP fragments degree glycosylation. Epidemiological, molecular, transmission studies strongly suggest...
It has been recognized that molecular classifications will form the basis for neuropathological diagnostic work in future. Consequently, order to reach a diagnosis of Alzheimer's disease (AD), presence hyperphosphorylated tau (HP-tau) and beta-amyloid protein brain tissue must be unequivocal. In addition, stepwise progression pathology needs assessed. This paper deals exclusively with regional assessment AD-related HP-tau pathology. The objective was provide straightforward instructions aid...
The tau gene has been found to be the locus of dementia with rigidity linked chromosome 17. Exonic and intronic mutations have described in a number families. Here we describe P301S mutation exon 10 new family. Two members this family were affected. One individual presented frontotemporal dementia, whereas his son corticobasal degeneration, demonstrating that same primary defect can lead 2 distinct clinical phenotypes. Both individuals developed rapidly progressive disease third decade....
beta-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673-->valine-673 (A673V)] that causes only in the homozygous state, whereas heterozygous carriers were unaffected, consistent a recessive Mendelian trait of inheritance. The A673V affected processing, resulting enhanced beta-amyloid (Abeta) production and formation amyloid fibrils vitro. Co-incubation mutated wild-type peptides conferred...
Abstract The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct trajectories. Here we introduce machine-learning technique—Subtype Stage Inference (SuStaIn)—able uncover data-driven with temporal progression patterns, from widely available cross-sectional patient studies. Results imaging studies in two reveal subgroups their trajectories regional...
Abstract Objective: The objective of the study is to report 2 new genotypic forms protease‐sensitive prionopathy (PSPr), a novel prion disease described in 2008, 11 subjects all homozygous for valine at codon 129 protein (PrP) gene (129VV). PSPr affect individuals who are either methionine (129MM) or heterozygous methionine/valine (129MV). Methods: Fifteen affected with 129MM, 129MV, and 129VV underwent comparative evaluation National Prion Disease Pathology Surveillance Center clinical,...
Cerebral amyloid angiopathy-related inflammation (CAA-ri) is characterized by vasogenic edema and multiple cortical/subcortical microbleeds, sharing several aspects with the recently defined amyloid-related imaging abnormalities (ARIA) reported in Alzheimer's disease (AD) passive immunization therapies. Herein, we investigated role of anti-amyloid β (Aβ) autoantibodies acute remission phases CAA-ri.We used a novel ultrasensitive technique on patients from retrospective multicenter...
There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, known pathological process FTD, but has yet to be explored as potential biomarker.Plasma GFAP and neurofilament light chain (NfL) concentration were measured 469 individuals enrolled the Genetic FTD Initiative: 114 C9orf72 expansion carriers (74 presymptomatic, 40 symptomatic), 119 GRN mutation (88 31 53 MAPT (34 19 symptomatic) 183 non-carrier...
To investigate whether and how amyloid-β protein (Aβ) is involved in the neurodegenerative changes characteristic of Alzheimer's disease (AD), primary hippocampal neurones from foetal rat brain were exposed acutely chronically to micromolar concentrations a synthetic peptide homologous residues 25–35 Aβ (β 25–35). A single application this (25–100 μM) was ineffective but when neuronal culture β repeatedly every two days for ten days, cell survival dramatically reduced. The structural DNA...
Deposition of PrP amyloid in cerebral vessels conjunction with neurofibrillary lesions is the neuropathologic hallmark dementia associated a stop mutation at codon 145 PRNP, gene encoding prion protein (PrP). In this disorder, vascular tissue sections and approximately 7.5-kDa fragment extracted from are labeled by antibodies to epitopes located sequence including amino acids 90-147. Amyloid-laden also against C terminus, suggesting that normal allele involved pathologic process. Abundant...
Gerstmann-Sträussler-Scheinker disease (GSS) is a prion-related encephalopathy pathologically characterized by massive deposition of prion protein (PrP) amyloid in the central nervous system. The major component fibrils isolated from patients Indiana kindred GSS (GSS-Ik) an 11-kDa fragment PrP spanning residues 58 to approximately 150. These carry missense mutation PRNP gene, causing Phe-->Ser substitution at codon 198. We investigated fibrillogenesis vitro using synthetic peptides...
Cerebral deposition of beta-amyloid is a major neuropathological feature in Alzheimer's disease. Here we show that tetracyclines, tetracycline and doxycycline, classical antibiotics, exhibit anti-amyloidogenic activity. This capacity was determined by the exposure beta 1-42 amyloid peptide to drugs followed electron microscopy examination fibrils spontaneously formed quantified with thioflavine T binding assay. The reduced also resistance trypsin digestion. Tetracyclines not only inhibited...
Gerstmann-Sträussler-Scheinker disease (GSS), a cerebello-pyramidal syndrome associated with dementia and caused by mutations in the prion protein gene (PRNP), is phenotypically heterogeneous. The molecular mechanisms responsible for such heterogeneity are unknown. Since we hypothesize that (PrP) may be clinico-pathologic heterogeneity, aim of this study was to analyze PrP several GSS variants. Among pathologic phenotypes GSS, recognize those without marked spongiform degeneration. In latter...