A5101873413- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Alcoholism and Thiamine Deficiency
- Amyotrophic Lateral Sclerosis Research
- Alzheimer's disease research and treatments
- Parkinson's Disease Mechanisms and Treatments
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Cerebrospinal fluid and hydrocephalus
- Myasthenia Gravis and Thymoma
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Autoimmune Neurological Disorders and Treatments
- S100 Proteins and Annexins
- Biotin and Related Studies
University of Bologna
2021-2025
Istituto delle Scienze Neurologiche di Bologna
2022-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2022
Abstract The development of in vitro seed amplification assays (SAA) detecting misfolded alpha-synuclein (αSyn) cerebrospinal fluid (CSF) and other tissues has provided a pathology-specific biomarker for Lewy body disease (LBD). However, αSyn SAA diagnostic performance early pathological stages or low (LB) pathology load only been assessed small cohorts. Moreover, the relationship between kinetic parameters, number brain seeds LB burden by immunohistochemistry never systematically...
Neurofilament light chain (NfL) and α-synuclein oligomeric seeds (α-syn-s) are promising biomarkers for patients with parkinsonism. We assessed their performance in discriminating Parkinson disease (PD) from atypical parkinsonisms (APDs) evaluated the association between NfL levels clinical measures of severity. measured cerebrospinal fluid (CSF) and/or plasma by immunoassays α-syn-s CSF real-time quaking-induced conversion (RT-QuIC) PD (n = 153), multiple system atrophy (MSA) 80),...
Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients neurodegenerative diseases. We aimed to further validate the clinical utility plasma (p) vs. CSF (c) NfL distinguishing Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. also assessed association biomarker values variables and survival established longitudinal changes pNfL during disease course. Methods: studied 231 prospectively enrolled suspected...
Phosphorylated-tau181 (p-tau181), a specific marker of Alzheimer's disease (AD) pathology, was found elevated in plasma but not cerebrospinal fluid (CSF) patients with amyotrophic lateral sclerosis (ALS). We expanded these findings larger patient cohort, exploring clinical/electrophysiological associations, prognostic value and longitudinal trajectories the biomarker.We obtained baseline samples from 148 ALS, 12 spinal muscular atrophy (SMA), 88 AD patients, 60 healthy controls. Baseline CSF...
Abstract INTRODUCTION We evaluated differences in p‐tau levels between Alzheimer's disease (AD), a condition with brain‐specific changes p‐tau, and amyotrophic lateral sclerosis (ALS), associated increases peripheral levels. METHODS Cerebrospinal fluid plasma from 668 participants were analyzed using immunoassays specific for the low‐molecular‐weight (LMW) tau isoforms present brain (i.e., p‐tau217 Lilly , p‐tau181 ) those that detect both LMW‐ high‐molecular‐weight (HMW) expressed nervous...
Background The introduction of the prion Real-Time Quaking-Induced Conversion assay (RT-QuIC) has led to a revision diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Validation studies are needed amended criteria, especially their value in clinical setting. Methods We studied 1250 patients with suspected CJD referred diagnosis two Italian reference centres between 2010 and 2020. Focusing on first assessment, we compared old that different combinations variables biomarker...
Abstract INTRODUCTION Rapidly progressive dementias (RPDs) are a group of neurological disorders characterized by rapid cognitive decline. The diagnostic value blood‐based biomarkers for Alzheimer's disease (AD) in RPD has not been fully explored. METHODS We measured plasma brain‐derived tau (BD‐tau) and p‐tau181 11 controls, 15 AD patients, 33 with RPD, which 19 were Creutzfeldt‐Jakob (CJD). RESULTS Plasma BD‐tau differentiated from controls ( p = 0.002 0.03, respectively), while...
Beta-synuclein is a promising cerebrospinal fluid and blood biomarker of synaptic damage. Here we analysed its accuracy in the discrimination between sporadic Creutzfeldt-Jakob disease (n = 150) non-prion rapidly progressive dementias 106). In fluid, beta-synuclein performed better than protein 14-3-3 (AUC 0.95 vs. 0.89) and, to lesser extent, total tau 0.92). Further, diagnostic value plasma 0.91) outperformed that 0.79) neurofilament light chain 0.65) was comparable biomarkers. might...
The diagnostic and prognostic value of plasma glial fibrillary acidic protein (pl-GFAP) in sporadic Creutzfeldt-Jakob disease (sCJD) has never been assessed the clinical setting rapidly progressive dementia (RPD). Using commercially available immunoassays, we assayed levels GFAP, tau (pl-tau), neurofilament light chain (pl-NfL) CSF total (t-tau), 14-3-3, NfL, phospho-tau181 (p-tau), amyloid-beta isoforms 42 (Aβ
Abstract BACKGROUND The diagnostic and prognostic performance of the novel fluid biomarkers brain‐derived tau (BD‐tau) phospho‐tau217 (p‐tau217) in Creutzfeldt–Jakob disease (CJD) is not defined. METHODS We measured cerebrospinal (CSF) plasma BD‐tau, p‐tau217, p‐tau181, total (t‐tau), neurofilament light (NfL), 14‐3‐3 100 CJD patients, with non‐prion rapidly progressive dementia (np‐RPD), 92 mild cognitive impairment due to Alzheimer's (AD‐MCI), 55 healthy controls (HC). RESULTS Plasma...
Abstract Evidence from neuropathological cohorts indicates that a CSF α-synuclein (α-syn) seed amplification assay (SAA) may provide quantitative kinetic parameters correlating with α-syn pathology burden in patients Lewy body disease (LBD). Studies are needed to assess their longitudinal trend during the pre-symptomatic and clinical phases correlation measures of progression. We aimed baseline SAA parameters, variations associations outcomes cohort longitudinally repeatedly sampled Body...
The levels of synaptic markers synaptosomal-associated protein 25 (SNAP-25) and neurogranin (Ng) have been shown to increase early in the cerebrospinal fluid (CSF) patients with Creutzfeldt-Jakob disease (CJD) prognostic potential. However, no validation studies assessed these biomarkers' diagnostic value a large clinical setting cohort rapidly progressive dementia.In this retrospective study, using commercially available immunoassays, we measured SNAP-25, Ng, 14-3-3, total-tau (t-tau),...
Abstract Introduction Surrogate cerebrospinal fluid (CSF) biomarkers of neurodegeneration still have a central role in the first‐line screening patients with suspected Creutzfeldt‐Jakob disease (CJD). Recently, CSF α‐synuclein, marker synaptic damage, showed close to optimal performance distinguishing between CJD and other neurodegenerative dementias. Methods We evaluated diagnostic value α‐synuclein prion disease, non‐prion rapidly progressive dementias, non‐neurodegenerative controls....
Proenkephalin (PENK) and prodynorphin (PDYN) are endogenous opioid peptides mainly produced in the striatum and, to a lesser extent, cerebral cortex. Dysregulated metabolism altered cerebrospinal fluid (CSF) levels of PENK PDYN have been described several neurodegenerative diseases. However, no study date investigated these CSF sporadic Creutzfeldt–Jakob disease (sCJD). Using liquid chromatography-multiple reaction monitoring mass spectrometry, we evaluated PDYN- PENK-derived peptide 25...
Recent studies reported increased plasma glial acidic fibrillary protein (GFAP) levels in amyotrophic lateral sclerosis (ALS) patients compared to controls. We expanded these findings a larger cohort, including 156 ALS and 48 controls, investigated the associations of GFAP with clinical variables other biofluid biomarkers. Plasma Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarkers were assessed by single molecule array Lumipulse platforms, respectively. In patients, was higher than...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of 71 years-old man diagnosed ALS an atypical phenotype, due to presence progressive ocular ptosis. Genetic analyses revealed two variants in SOD1 TBK1 genes respectively LHON-associated m.14484T>C variant mitochondrial DNA (mtDNA). We discuss how all these may synergically impinge on...
Abstract Background The levels of synaptic markers synaptosomal-associated protein 25 (SNAP-25) and neurogranin (Ng) have been shown to increase early in the cerebrospinal fluid (CSF) patients with Creutzfeldt-Jakob disease (CJD) prognostic potential. However, no validation studies assessed these biomarkers' diagnostic value a large clinical setting cohort rapidly progressive dementia. Methods In this retrospective study, using commercially available immunoassays, we measured SNAP-25, Ng,...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of 71 years-old man diagnosed ALS atypical clinical features consisting in progressive ocular ptosis sensorineural deafness. Genetic analyses revealed two heterozygous variants, SOD1 (OMIM*147450) TBK1 (OMIM*604834) genes respectively, furthermore mitochondrial DNA (mtDNA) sequencing identified...
Abstract Background Beta‐synuclein (beta‐syn) is an emerging biofluid marker for synaptic damage in several neurological diseases. In particular, patients with prion disease showed significantly higher cerebrospinal fluid (CSF) and blood beta‐syn levels compared to controls subjects other neurodegenerative disorders. However, date, no study explored the biomarker distribution prognostic value across heterogeneous spectrum of sporadic Creutzfeldt‐Jakob (sCJD) as well its diagnostic...