A5016833901- Amyotrophic Lateral Sclerosis Research
- Prion Diseases and Protein Misfolding
- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Dementia and Cognitive Impairment Research
- Olfactory and Sensory Function Studies
- Neurological disorders and treatments
- Intracerebral and Subarachnoid Hemorrhage Research
- Genetic Neurodegenerative Diseases
- Aluminum toxicity and tolerance in plants and animals
- Viral Infectious Diseases and Gene Expression in Insects
- Cancer-related gene regulation
- Cancer therapeutics and mechanisms
- Pluripotent Stem Cells Research
- Cholinesterase and Neurodegenerative Diseases
- Suicide and Self-Harm Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Transcranial Magnetic Stimulation Studies
- Venous Thromboembolism Diagnosis and Management
- Legume Nitrogen Fixing Symbiosis
- Epigenetics and DNA Methylation
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Memory and Neural Mechanisms
University of Zurich
2021-2025
Scuola Internazionale Superiore di Studi Avanzati
2018-2021
University of Genoa
2012-2020
Ospedale Policlinico San Martino
2016-2019
Martin University
2016
Pediatrics and Genetics
2015
Abstract The pathological deposition of the transactive response DNA-binding protein 43 kDa occurs in majority (∼97%) amyotrophic lateral sclerosis and around 45% frontotemporal lobar degeneration cases. Amyotrophic clinically overlap, presenting a continuum phenotypes. Both lack treatments capable interfering with underlying process early detection pathology would facilitate development disease-modifying drugs. real-time quaking-induced conversion reaction showed ability to detect prions...
We investigated whether the C9orf72 repeat expansion is associated with specific clinical features, comorbidities, and prognosis in patients amyotrophic lateral sclerosis (ALS). A cohort of 1417 ALS patients, diagnosed between January 1, 2009 December 31, 2013 by 13 Italian Referral Centers, was screened for expansion, analyses were performed comparing carrying this (ALS-C9Pos) to those negative other explored ALS-related mutations (ALS without genetic mutations, ALSwoGM). Compared ALSwoGM...
<b><i>Background/Aims:</i></b> Apathy is the most common initial symptom of frontotemporal dementia (FTD) and has been linked to frontal-subcortical dopaminergic system dysfunction. No pharmacological therapy approved for treatment apathy, but, on basis its physiopathological mechanism, we suspected that increasing prefrontal innervation could improve this disabling symptom. <b><i>Methods:</i></b> We evaluated a group 24 nondepressed patients...
Background and purpose Only a few studies have considered the role of comorbidities in prognosis amyotrophic lateral sclerosis ( ALS ) provided conflicting results. Methods Our multicentre, retrospective study included patients diagnosed from 1 January 2009 to 31 December 2013 13 referral centres for located 10 Italian regions. Neurologists at these collected detailed phenotypic profile follow‐up data until death an electronic database. Comorbidities diagnosis were recorded by main...
Abstract INTRODUCTION We assessed TAR DNA‐binding protein 43 (TDP‐43) seeding activity and aggregates detection in olfactory mucosa of patients with frontotemporal lobar degeneration TDP‐43‐immunoreactive pathology (FTLD‐TDP) by TDP‐43 amplification assay (TDP43‐SAA) immunocytochemical analysis. METHODS The TDP43‐SAA was optimized using frontal cortex samples from 16 post mortem cases FTLD‐TDP, FTLD tau inclusions, controls. Subsequently, were collected 17 15 healthy controls, three carrying...
In amyotrophic lateral sclerosis, functional alterations within the brain have been intensively assessed, while progression of lower motor neuron damage has scarcely defined. The aim present study was to develop a computational method systematically evaluate spinal cord metabolism as tool monitor disease mechanisms. A new three-dimensional extract from 18F-FDG PET/CT images evaluated in 30 patients with onset sclerosis and controls. algorithm identified skeleton on CT by using an extension...
Our objectives were: (1) to assess amyotrophic lateral sclerosis (ALS) incidence and its trend over time in Liguria, an Italian north-western region, performing analysis of data prospectively collected from 1 January 2009 31 December 2014; (2) determine the mean median survival 2009–2014 Ligurian ALS incident cases; (3) evaluate presence disease prognostic factors. The Liguria Register for (LIGALS) is ongoing, multicentre prospective register enrolling all cases Liguria. Cases were...
Article22 November 2021Open Access Transparent process FTLD-TDP assemblies seed neoaggregates with subtype-specific features via a prion-like cascade Pierre De Rossi orcid.org/0000-0002-2356-4269 Department of Quantitative Biomedicine, University Zurich, Switzerland Search for more papers by this author Amanda J Lewis orcid.org/0000-0001-7257-5848 Laboratory Biological Electron Microscopy, Institute Physics, SB, EPFL, Fundamental Microbiology, Faculty Biology and Medicine, UNIL, Lausanne,...
Cytoplasmic aggregation of the primarily nuclear TAR DNA-binding protein 43 (TDP-43) affects neurons in most amyotrophic lateral sclerosis (ALS) and approximately half frontotemporal lobar degeneration (FTLD) cases. The cellular prion protein, PrPC, has been recognized as a common receptor downstream effector circulating neurotoxic species several proteins involved neurodegeneration. Here, capitalizing on our recently adapted TDP-43 real time quaking induced reaction, we set reproducible...
Neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) results from both gain of toxicity loss normal function the RNA-binding protein TDP-43, but their mechanistic connection remains unclear. Increasing evidence suggests that TDP-43 aggregates act as self-templating seeds, propagating pathology through central nervous system via a prion-like cascade. We developed robust TDP-43-seeding platform for quantitative assessment aggregate uptake, cell-to-cell...
Our objective was to assess the incidence and trends of amyotrophic lateral sclerosis (ALS) in Liguria, a north-west region Italy, utilizing prospective design. Liguria (1,615,064 residents 2010) is site multicentre-multisource population based registry called LIGALS (Liguria Amyotrophic Lateral Sclerosis Registry). All incident ALS cases during period 2009–2010 were enrolled followed up. Cases identified using several concurrent sources. diagnosis on revised El Escorial criteria. One...
Scialò, Carlo MD; Ferrara, Michela Accardo, Jennifer Morbelli, Silvia MD, PhD; Picco, Agnese Arnaldi, Dario Brugnolo, Andrea PsyD; Girtler, Nicola Nobili, Flavio MD Author Information
Mills syndrome is a rare condition characterized by slowly progressive upper motor neuron-predominant hemiparesis, belonging to the neuron disorder spectrum. Predominantly unilateral primary degeneration of corticospinal pathways supposed underlying pathophysiological mechanism. By means 18F-Fluorodeoxyglucose Positron Emission Tomography, we found significant (Statistical Parametric Mapping, SPM, analysis versus controls, uncorrected p < 0.005 at voxel level, 0.05 cluster corrected for...
Spinal cord atrophy is one of the hallmarks amyotrophic lateral sclerosis (ALS); however, it not routinely assessed in routine clinical practice. In present study, we evaluated whether spinal cross-sectional area measured at foramen magnum level using a magnetic resonance imaging head scan represents clinically meaningful measure to be added whole-brain volume assessment. Using an active surface approach, and brain parenchymal fraction on T1-weighted three-dimensional spoiled gradient...
AbstractObjective This article presents an updated analysis of the LIGALS register, a prospective study conducted over ten-year period (2009-2018) in Liguria, Italy, aimed at evaluating incidence, prevalence, clinical presentation, and management amyotrophic lateral sclerosis (ALS).Methods We calculated mean annual crude incidence rate ALS, assessed point prevalence ALS on January 1, 2018, analyzed demographic factors, characteristics, strategies. Data included Cox regression to identify...