Publications by authors named "Pilotto Andrea"

Introduction: Neuropsychiatric symptoms (NPSs) are common in dementia with Lewy bodies (DLB) but their neurobiological mechanisms are poorly understood.

Methods: NPSs and cognition were assessed annually in participants (DLB n = 222; Alzheimer's disease [AD] n = 125) from the European DLB (E-DLB) Consortium, and plasma phosphorylated tau-181 (p-tau181) and p-tau231 concentrations were measured at baseline.

Results: Hallucinations, delusions, and depression were more common in DLB than in AD and, in a subgroup with longitudinal follow-up, persistent hallucinations and NPSs were associated with lower p-tau181 and p-tau231 in DLB.

View Article and Find Full Text PDF

Background: Progressive Supranuclear Palsy (PSP) is a rare, heterogeneous neurodegenerative disease for which no treatment is currently available. In the context of clinical trials, the representativeness of the included patients is crucial for the generalizability of the results. Herein, we present results from a multicenter perspective study to identify the most restrictive criteria for patient selection and to assess the representativeness of eligible patients.

View Article and Find Full Text PDF

Plasma phosphorylated-tau217 (p-tau217) has been shown to be one of the most accurate diagnostic markers for Alzheimer's disease. No studies have compared the clinical performance of p-tau217 as assessed by the fully automated Lumipulse and single molecule array (SIMOA) AlZpath p-tau217. The study included 392 participants, 162 with Alzheimer's disease, 70 with other neurodegenerative diseases with CSF biomarkers and 160 healthy controls.

View Article and Find Full Text PDF

Objectives: Neuropsychiatric symptoms, such as apathy, disinhibition and irritability, are common in Progressive Supranuclear Palsy (PSP). The Frontal Behaviour Inventory (FBI) is a useful instrument for the evaluation of behavioural disorders in neurodegenerative diseases. The main goal of the present study was to explore the psychometric properties of the FBI in PSP.

View Article and Find Full Text PDF
Article Synopsis
  • The study explored whether high-intensity interval training (HIIT) creates an epigenetic memory in skeletal muscle similar to what has been observed with resistance training.
  • Twenty healthy participants underwent two HIIT cycles with a three-month break in between to examine changes in muscle gene expression and DNA methylation.
  • Results showed significant improvements in oxygen consumption and identified specific genes with lasting changes in DNA methylation and expression related to muscle function, even after a period of not training.
View Article and Find Full Text PDF

Background: Frailty, defined as multidimensional prognostic index (MPI), has been recently identified as strong predictor of disability and mortality in the elderly with acute ischemic stroke (AIS). The stress hyperglycemia ratio (SHR) is a recently introduced biomarker significantly associated with poor outcome in AIS.

Objectives: This study aimed to investigate in what extent frailty, measured by MPI, and SHR affects the 3-months outcome of patients > 65 years-old with AIS.

View Article and Find Full Text PDF

Large clinical data underscore that heart failure is independently associated to an increased risk of negative cognitive outcome and dementia. Emerging evidence suggests that cerebral hypoperfusion, stemming from reduced cardiac output and vascular pathology, may contribute to the largely overlapping vascular dementia and Alzheimer's disease. Despite these insights, cognitive outcomes remain largely overlooked in heart failure management.

View Article and Find Full Text PDF

Background: Advances in encephalitis research have improved the definition and management of encephalitis during the acute phase. Still, little is known about long-term outcomes in different subtypes of encephalitis.

Objectives: To analyze the prevalence and predictors of long-term clinical outcomes in different subtypes of encephalitis.

View Article and Find Full Text PDF

Methods: This study assessed data from two cohorts of patients with alpha-synucleinopathies (University of Brescia and University of Rome Tor-Vergata cohorts). Consecutive participants with video-polysomnography-confirmed iRBD, Parkinson's disease (PD), dementia with Lewy bodies (DLB) and controls underwent neurological, clinical and I-FP-CIT SPECT imaging assessments. Individuals with iRBD were longitudinally monitored to collect clinical phenoconversion to PD or DLB.

View Article and Find Full Text PDF
Article Synopsis
  • - The emergence of new methods to detect misfolded α-synuclein aggregates in biofluids and tissue biopsies is redefining what Parkinson's disease (PD) is at a biological level, particularly in its early phases.
  • - Techniques like αSyn seed amplification in cerebrospinal fluid (CSF) have shown strong accuracy for diagnosing early PD and related disorders, with findings also indicating a link between CSF αSyn positivity and the likelihood of developing clinical symptoms.
  • - Although these detection methods show promise, further validation through ongoing studies is needed to accurately assess and implement them for different early-stage PD subtypes in clinical practice.
View Article and Find Full Text PDF

Background: The Boston Cognitive Assessment (BOCA) is a self-administered online test developed for cognitive screening and longitudinal monitoring of brain health in an aging population. The study aimed to validate BOCA in an Italian population and to investigate the convergent validity with the Montreal Cognitive Assessment (MOCA) in healthy ageing population and patients within the Alzheimer Disease spectrum.

Methods: BOCA was administered to 150 participants, including cognitively healthy controls (HC, n = 50), patients with mild cognitive impairment (MCI, n = 50), and dementia (DEM, n = 50).

View Article and Find Full Text PDF

Background And Objectives: Excessive Manganese (Mn) exposure is neurotoxic and can cause Mn-Induced Parkinsonism (MnIP), marked by cognitive and motor dysfunction. Although metabolomic and lipidomic research in Parkinsonism (PD) patients exists, it remains limited. This study hypothesizes distinct metabolomic and lipidomic profiles based on exposure status, disease diagnosis, and their interaction.

View Article and Find Full Text PDF
Article Synopsis
  • Family history of Parkinson's disease (PD) was examined in a study involving 2035 PD patients across 28 Italian centers, revealing that 21.9% had a family history of the disease.
  • Familial PD (fPD) patients experienced symptoms at an earlier age compared to sporadic PD (sPD) patients, although both groups showed similar prevalence of motor and nonmotor symptoms.
  • The findings suggest that fPD occurs more frequently than previously thought, highlighting the need for comprehensive family history taking to uncover potential disease patterns and risk factors.
View Article and Find Full Text PDF

Introduction: The prognostic role of plasma neurofilament light chain (NfL), phospho-tau, beta-amyloid, and GFAP is still debated in Parkinson's disease (PD).

Methods: Plasma p-tau181, p-tau231, Aβ1-40, Aβ1-42, GFAP, and NfL were measured by SIMOA in 136 PD with 2.9 + 1.

View Article and Find Full Text PDF

Aim of the project was to evaluate the technical and clinical validity of plasma Lumipulse p-tau, Aβ42 and Aβ40 species and their correlation with CSF core Alzheimer's Disease (AD) markers; a method comparison with SIMOA was also performed. One-hundred-thirthy-three participants, namely 55 A+T+N+ AD, 28 Neurodegenerative disorders (NDD) and 50 controls were enrolled for the study. Lumipulse technical validity showed high stability for p-tau181, Aβ42, and Aβ40, with higher stability of p-tau to repeated freezing thaw cycles.

View Article and Find Full Text PDF

Alzheimer's disease (AD) and Frontotemporal lobar degeneration (FTLD) represent the most common forms of neurodegenerative dementias with a highly phenotypic variability. Herein, we investigated the role of genetic variants related to the immune system and inflammation as genetic modulators in AD and related dementias. In patients with sporadic AD/FTLD (n = 300) and / mutation carriers (n = 80), we performed a targeted sequencing of 50 genes belonging to the immune system and inflammation, selected based on their high expression in brain regions and low tolerance to genetic variation.

View Article and Find Full Text PDF

Early-onset Parkinson's disease (EOPD) is defined as PD with an age of onset after 21 years of age but before 50 years. It displays many important differences to late-onset PD in terms of its pathology, phenotype, presentation and disease course, all of which have consequences for achieving a definitive diagnosis, the choice of therapy and approach to management. Studies show that this younger population is keen to embrace digital technologies as part of PD care, being familiar with using digital tools in their daily lives.

View Article and Find Full Text PDF

Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link between GBA1 mutations, GD and PD is not fully understood.

View Article and Find Full Text PDF

Background: Neuroinflammation, with altered peripheral proinflammatory cytokine production, plays a major role in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease (AD), while the role of inflammation in dementia with Lewy bodies (DLB) is less known and the results of different studies are often in disagreement.

Objective: The present study aimed to investigate the levels of TNFα and IL-6 in serum and supernatants, and the related DNA methylation in patients affected by DLB and AD compared to healthy controls (HCs), to clarify the role of epigenetic mechanisms of DNA promoter methylation on of pro-inflammatory cytokines overproduction.

Methods: Twenty-one patients with DLB and fourteen with AD were frequency-matched for age and sex with eleven HCs.

View Article and Find Full Text PDF

Background: Plasma phosphorylated-tau217 (p-tau217) has been shown to be one of the most accurate diagnostic markers for Alzheimer's disease (AD). No studies have compared the clinical performance of p-tau217 as assessed by the fully automated Lumipulse and SIMOA ALZpath p-tau217.

Aim: To evaluate the diagnostic accuracy of Lumipulse and SIMOA plasma p-tau217 assays for AD.

View Article and Find Full Text PDF

Background And Objectives: Dementia presents not only differing neuropsychiatric symptoms (NPS) across Alzheimer disease (AD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) but also subjective cognitive decline (SCD). This study examined sex-based variations in NPS severity and progression across these conditions.

Methods: We performed a longitudinal cohort study including 1,068 participants.

View Article and Find Full Text PDF

Background: Parkinson's disease (PD) patients are frequently exposed to antidepressant medications (ADMs). Norepinephrine (NE) and serotonin (5HT) systems have a role in levodopa-induced dyskinesias (LID) pathophysiology.

Methods: We performed a longitudinal analysis on the PPMI cohort including drug-naïve PD patients, who are progressively exposed to dopamine replacement therapies (DRTs) to test the effect of ADM exposure on LID development by the 4th year of follow-up.

View Article and Find Full Text PDF

Apolipoprotein E (APOE) is recognized for its role in modulating blood-brain barrier (BBB) permeability in vitro, which may have significant implications for the pathogenesis and progression of neurodegenerative disorders. However, evidence in vivo is contrasting. This study explores the impact of APOE genotypes on BBB integrity among 230 participants experiencing cognitive impairment, encompassing cases of Alzheimer's disease (AD) as well as various non-AD neurodegenerative conditions.

View Article and Find Full Text PDF
Article Synopsis
  • Tremor disorders often get misdiagnosed, and this study compares three types: pure Essential Tremor (ET), ET with soft dystonic signs (ET + DS), and tremor with dystonia (TwD).
  • Researchers analyzed 383 patients, finding significant differences in demographics and tremor onset sites among the groups, along with varying symptoms and responsiveness to treatment.
  • The findings suggest overlaps between pure ET and TwD, indicating a need for better diagnostic tools, with ET + DS showing characteristics from both groups, highlighting a complexity within these syndromes.
View Article and Find Full Text PDF