A5016120298- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Cerebrovascular and genetic disorders
- Bioinformatics and Genomic Networks
- Cholinesterase and Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Lipoproteins and Cardiovascular Health
- HER2/EGFR in Cancer Research
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Neuroendocrine Tumor Research Advances
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genetic Neurodegenerative Diseases
- Monoclonal and Polyclonal Antibodies Research
- Cancer Cells and Metastasis
- Advanced Glycation End Products research
- Genetics, Aging, and Longevity in Model Organisms
- Glycosylation and Glycoproteins Research
- Amino Acid Enzymes and Metabolism
- Intracerebral and Subarachnoid Hemorrhage Research
- Computational Drug Discovery Methods
Ospedale San Filippo Neri
2023
University Hospital of Lausanne
2023
National Hospital for Neurology and Neurosurgery
2020
University College London
2018-2020
Azienda Ospedaliera G.Rummo
2020
Azienda Unità Sanitaria Locale Della Romagna
2020
Ospedale Garibaldi
2019
Salford Royal NHS Foundation Trust
2018
University of Manchester
2018
University of California, San Francisco
2017-2018
<h3>Background</h3> The receptor for advanced glycation end products (RAGE) is a cell surface that has been implicated in vascular disease and neurodegeneration. Low levels of its secreted isoform, soluble RAGE (sRAGE), have regarded as putative risk factor atherosclerosis. In addition, administration sRAGE shown to reduce development cerebral β-amyloidosis an Alzheimer mouse model. <h3>Objective</h3> To investigate the role biological marker dementia. <h3>Design</h3> Cross-sectional study...
Frontotemporal dementia (FTD) is the second most prevalent form of early onset after Alzheimer's disease (AD). We performed a case-control association study in an Italian FTD cohort (n = 530) followed by novel single nucleotide polymorphisms (SNPs)-to-genes approach and functional annotation analysis. identified 2 potential loci for FTD. Suggestive SNPs reached p-values ∼10(-7) odds ratio > 2.5 (2p16.3) 1.5 (17q25.3). alleles at 17q25.3 disease-associated haplotype causing decreased...
<b>Background: </b> Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations the progranulin gene (<i>GRN</i>). <b>Objective: To determine frequency of <i>GRN</i> a cohort Caucasian patients with FTD without known genes. <b>Methods: </b><i>GRN</i> sequenced series 78 independent including 23 familial subjects. A different Calabrian dataset (109 normal control subjects and 96 patients) used to establish mutation. <b>Results: novel mutation...
Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from remote common ancestor. Recently, several other EOFAD same have been described worldwide.We searched founder in different geographic origins by genealogic and molecular analyses. We also investigated...
To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which APP A713T mutation is present homozygous and heterozygous state. date, has been reported as dominant, state associated with familial AD cerebrovascular lesions.The described here genealogically reconstructed over 6 generations dating back to 19th century. Plasma β-amyloid peptide was measured. Sequencing of causative genes performed.Twenty-one individuals, all but 1 born from 2 consanguineous...
Mutation A713T in the amyloid precursor protein (APP) has been linked to cases of Alzheimer's disease (AD), cerebral angiopathy (CAA) and cerebrovascular disease. Despite its rarity, it observed several families from same geographical area, Calabria region Southern Italy. Genotyping 720,000 genome-wide SNPs with HumanOmniExpress BeadChip was performed for six patients that were representative apparently unrelated Calabrian families, as well a Belgian subject Italian descent (all mutation...
Corticosteroid-binding globulin (CBG) is the binding protein for cortisol. Rare kindreds with CBG mutations reducing levels or altering affinity have been described, along clinical manifestations encompassing fatigue, chronic pain, and hypotension. The largest kindred, exhibiting two (null Lyon) were Australian immigrants from Italy.Our objective was to determine prevalence of null/Lyon in village where original family emigrated compare subjects without mutations, previous knowledge their...
Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative Niemann-Pick type C disease (NPC) have also been implicated in neurodegenerative diseases. NPC is an autosomal recessive lipid storage disorder caused by NPC1 NPC2 genes. In adults, clinical presentation mimicking other makes diagnosis difficult. Recent evidence suggests that heterozygous genes...
Genetic testing of familial Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) is attracting interest thanks to innovative primary prevention clinical trials increased request for information by at-risk individuals. However, ethical, social, psychological implications are paramount genetic must be supported structured counseling. In Italy, practice parameters guidelines counseling in dementia not available.To develop a nationally harmonized protocol AD FTLD.Activities were...
Background The distinction between mesothelioma with epithelioid features and metastatic carcinoma may be challenging, particularly on cytology. A novel 2‐hit Claudin‐4 BRCA‐associated protein 1 (BAP1) panel was investigated. Methods objective of this study to determine the sensitivity, specificity, positive predictive value, negative accuracy cytology from pleural effusions matched biopsies, including 49 malignant mesotheliomas 43 normal/reactive mesothelial proliferations, carcinomas...
Mutations in the amyloid-beta protein precursor (AbetaPP) gene can cause autosomal dominant early-onset Alzheimer's disease, or disease (AD) associated with cerebral amyloid angiopathy (CAA), hemorrhage, both. We have previously reported that AbetaPP A713T mutation is AD and subcortical ischemic lesions at magnetic resonance imaging a large family which neuropathology confirmed CAA, stroke, lesions. The objective of this clinical molecular study was to investigate mutations 59 patients...
Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, have also been documented patients amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth type 2 (CMT2) disease, and hereditary spastic paraplegia (HSP), underlining the heterogeneity phenotypes mutations. In this study, we reported a novel missense heterozygous variant c.1184A > C...
Lipoprotein(a) [Lp(a)] level is a newly established vascular risk factor which has been suggested to play role in dementia. However, the majority of Lp(a) cell-to-cell interactions are mediated by its specific apolipoprotein(a) [apo(a)] moiety. This suggests that size polymorphism apo(a) may be importance conveying Lp(a)-related risk. Specifically, we postulated variation isoform lead increased dementia (VaD), Alzheimer’s disease (AD), stroke, or all three them. Under case-control design...