A5082692438- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Trace Elements in Health
- Parkinson's Disease Mechanisms and Treatments
- Peripheral Neuropathies and Disorders
- Olfactory and Sensory Function Studies
- Long-Term Effects of COVID-19
- Infectious Encephalopathies and Encephalitis
- Alcoholism and Thiamine Deficiency
- Neurological disorders and treatments
- Dementia and Cognitive Impairment Research
- Amino Acid Enzymes and Metabolism
- Neuroinflammation and Neurodegeneration Mechanisms
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Viral Infections and Immunology Research
- RNA regulation and disease
- Amyotrophic Lateral Sclerosis Research
- SARS-CoV-2 and COVID-19 Research
- Hereditary Neurological Disorders
- COVID-19 Clinical Research Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- 14-3-3 protein interactions
- Multiple Sclerosis Research Studies
- Botulinum Toxin and Related Neurological Disorders
University of Verona
2016-2025
Azienda Ospedaliera Universitaria Integrata Verona
2002-2019
University of California, San Francisco
2016
Morpho (United States)
2011
Humanitas University
2006
University of Milan
2006
Istituti di Ricovero e Cura a Carattere Scientifico
2006
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2006
Ospedale Maggiore
2006
Istituto Zooprofilattico Sperimentale della Lombardia e dell'Emilia Romagna "Bruno Ubertini"
1998-2004
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...
Definite diagnosis of sporadic Creutzfeldt–Jakob disease in living patients remains a challenge. A test that detects the specific marker for disease, prion protein (PrPCJD), by means real-time quaking-induced conversion (RT-QuIC) testing cerebrospinal fluid has sensitivity 80 to 90% disease. We have assessed accuracy RT-QuIC analysis nasal brushings from olfactory epithelium diagnosing patients.
The diagnosis and treatment of synucleinopathies such as Parkinson disease dementia with Lewy bodies would be aided by the availability assays for pathogenic disease-associated forms α-synuclein (αSyn
Fast, definitive diagnosis of Creutzfeldt-Jakob disease (CJD) is important in assessing patient care options and transmission risks. Real-time quaking-induced conversion (RT-QuIC) assays cerebrospinal fluid (CSF) nasal-brushing specimens are valuable distinguishing CJD from non-CJD conditions but have required 2.5 to 5 days. Here, an improved RT-QuIC assay described which identified positive CSF samples within 4 14 h with better analytical sensitivity. Moreover, analysis 11 patients...
Early and accurate in vivo diagnosis of Creutzfeldt-Jakob disease (CJD) is necessary for quickly distinguishing treatable from untreatable rapidly progressive dementias future therapeutic trials. This early becoming possible using the real-time quaking-induced conversion (RT-QuIC) seeding assay, which detects minute amounts disease-specific pathologic prion protein cerebrospinal fluid (CSF) or olfactory mucosa (OM) samples.To develop an algorithm CJD by RT-QuIC assay on CSF samples, OM...
Abstract Background Recent findings indicated that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related neurological manifestations involve cytokine release along with endothelial activation, blood brain barrier dysfunction, and immune-mediated mechanisms. Very few studies have fully investigated the cerebrospinal fluid (CSF) correlates of SARS-CoV-2 encephalitis. Methods Patients polymerase chain reaction (PCR)-confirmed infection encephalitis (COV-Enc), without (ENC),...
Isolated REM sleep behaviour disorder (RBD) is an early-stage α-synucleinopathy in most, if not all, affected subjects. Detection of pathological α-synuclein peripheral tissues patients with isolated RBD may identify those progressing to Parkinson's disease, dementia Lewy bodies or multiple system atrophy, the ultimate goal testing preventive therapies. Real-time quaking-induced conversion (RT-QuIC) provided evidence seeding activity CSF and olfactory mucosa α-synucleinopathies. The aim this...
Corticobasal degeneration is a sporadic form of tauopathy, involving the cerebral cortex and extrapyramidal motor system. A series affected subjects was genotyped for set genetic markers along tau protein gene. specific haplotype significantly overrepresented in patients versus controls. This same already reported association with progressive supranuclear palsy. These data show that corticobasal palsy, addition to several clinical, pathological, molecular features, may have background.
By immunizing prion knockout mice (Prnp-/-) with recombinant murine protein (PrPc), we obtained a panel of mAbs specific for PrPc. These can be applied to immunoblotting, cell surface immunofluorescent staining, and immunohistochemistry at light electron microscopy. recognize both the normal (PrPc) protease-resistant (PrPres) isoforms PrP. Some are species restricted, while others react PrP from broad range mammals including mice, humans, monkeys, cows, sheep, squirrels, hamsters. Moreover,...
Bovine spongiform encephalopathy (BSE), the prion disease in cattle, was widely believed to be caused by only one strain, BSE-C. BSE-C causes fatal named new variant Creutzfeldt-Jacob humans. Two atypical BSE strains, bovine amyloidotic (BASE, also BSE-L) and BSE-H, have been discovered several countries since 2004; their transmissibility phenotypes humans are unknown. We investigated infectivity human phenotype of BASE strains inoculating transgenic (Tg) mice expressing protein with brain...
Atypical neuropathological and molecular phenotypes of bovine spongiform encephalopathy (BSE) have recently been identified in different countries. One these phenotypes, named "amyloidotic" (BASE), differs from classical BSE for the occurrence a distinct type disease-associated prion protein (PrP), termed PrPSc, presence PrP amyloid plaques. Here, we show that agents responsible BASE possess biological properties upon transmission to transgenic mice expressing inbred lines nontransgenic...
Alzheimer disease (AD) and chronic traumatic encephalopathy (CTE) involve the abnormal accumulation in brain of filaments composed both three-repeat (3R) four-repeat (4R) (3R/4R) tau isoforms. To probe molecular basis for AD's filament propagation to improve detection aggregates as potential biomarkers, we have exploited seeded polymerization growth mechanism develop a highly selective ultrasensitive cell-free seed amplification assay optimized AD (AD real-time quaking-induced conversion or...
Several preclinical and clinical investigations have argued for nervous system involvement in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Some sparse case reports described various forms of encephalitis disease 2019 (COVID-19) disease, but very few data focused on presentations, course, response to treatment, outcomes.The SARS-CoV-2 related encephalopaties (ENCOVID) multicenter study included patients with full infectious screening, cerebrospinal fluid (CSF),...
We applied RT-QuIC assay to detect α-synuclein aggregates in cerebrospinal fluid (CSF) of patients with suspected Creutzfeldt-Jakob disease who had a neuropathological diagnosis dementia Lewy bodies (DLB) (n = 7), other neurodegenerative diseases mixed pathology 20), or without Lewy-related 49). The test sensitivity 92.9% and specificity 95.9% distinguishing α-synucleinopathies from non-α-synucleinopathies. When performed the CSF DLB 36), was positive 17/20 probable DLB, 0/6 possible 0/10...
Multiple neurodegenerative diseases are characterized by aggregation of tau molecules. Adult humans express six isoforms that contain either 3 or 4 microtubule binding repeats (3R 4R tau). Different involve preferential 3R (e.g Pick disease), (e.g. progressive supranuclear palsy), both and molecules [e.g. Alzheimer disease chronic traumatic encephalopathy]. Three ultrasensitive cell-free seed amplification assays [called real-time quaking induced conversion (tau RT-QuIC) assays] have been...
Abstract Creutzfeldt–Jakob Disease (CJD) is a fatal, currently incurable, neurodegenerative disease. The search for candidate treatments would be greatly facilitated by the availability of human cell-based models prion Recently, an induced pluripotent stem cell derived cerebral organoid model was shown to take up and propagate CJD prions. This offers new opportunities screen drug candidates treatment diseases in entirely genetic background. Here we provide first evidence that organoids can...
In patients with suspected dementia Lewy bodies, the detection of disease-associated α-synuclein in easily accessible tissues amenable to be collected using minimally invasive procedures remains a major diagnostic challenge. This approach has potential take advantage modern molecular assays for diagnosis α-synucleinopathy and, turn, optimize recruitment and selection clinical trials, drugs directed at counteracting aggregation. this study, we explored accuracy real-time quaking-induced...
<h3>Importance</h3> Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly lethal disease. Rapid, accurate diagnosis imperative for epidemiological surveillance and public health activities to exclude treatable differentials facilitate supportive care. In 2017, the International CJD Surveillance Network diagnostic criteria were revised incorporate cortical ribboning on magnetic resonance imaging real-time quaking-induced conversion (RT-QuIC) assay, developments that require multicenter...
Serpins represent the most broadly distributed superfamily of proteases inhibitors. They contribute to a variety physiological functions and any alteration serpin-protease equilibrium can lead severe consequences. SERPINA3 dysregulation has been associated with Alzheimer's disease (AD) prion diseases. In this study, we investigated differential expression serpin members in neurodegenerative SERPIN was analyzed human frontal cortex samples from cases sporadic Creutzfeldt-Jakob (sCJD),...
Accumulating evidence suggests that α-synuclein (αSyn) can modulate Alzheimer's disease (AD) pathology. The aim of this study was to evaluate the prevalence and clinical features associated with cerebrospinal fluid (CSF) αSyn detected by seed amplification assay (SAA) in AD.Eighty AD patients CSF AT(N) biomarker positivity (mean age 70.3 ± 7.3 years) 28 non-AD age-matched controls were included. All subjects underwent standardized assessment; aggregates SAA.CSF αSyn-SAA positive (αSyn+)...