Publications by authors named "Lucio Tremolizzo"

Background: The new criteria for Alzheimer's disease pave the way for the introduction of core blood biomarkers of Alzheimer's disease (BBAD) into clinical practice. However, this depends on the demonstration of sufficient accuracy and robustness of BBADs in the intended population.

Objectives: To assess the diagnostic performance of core BBADs in our memory clinic, comparing them with cerebrospinal fluid (CSF) analysis.

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  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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  • Poor affect recognition is an early indicator of frontotemporal dementia (FTD), and this study used the Comprehensive Affect Testing System (CATS-A) to assess emotional dysfunction in FTD patients compared to healthy controls.
  • The study involved 139 FTD patients of various subtypes and tested them alongside 116 healthy controls, measuring their Affective Recognition Quotient (ARQ) to evaluate emotional recognition accuracy.
  • Results showed that the CATS-A effectively differentiated between FTD patients and healthy controls with high accuracy (AUC 0.89) and had robust internal reliability, suggesting it's a valuable clinical tool for assessing emotional dysfunction in FTD.
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  • The study focused on predicting the spread of pathology in frontotemporal dementia (FTD) to improve early diagnosis and intervention, utilizing the Network Diffusion Model (NDM) to analyze brain atrophy in patients.
  • Researchers examined various FTD subtypes, finding four main epicenters of atrophy, with significant correlations between NDM predictions and actual longitudinal changes observed in patients over 24 months.
  • Results highlighted the progression patterns of different FTD variants, with notable early involvement in specific brain regions and varying effects on atrophy depending on the subtype, particularly in semantic-variant PPA and semantic behavioral variant FTD.
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The behavioral and psychological symptoms of dementia (BPSD) are a heterogeneous set of challenging disturbances of behavior, mood, perception, and thought that occur in almost all patients with dementia. A huge number of instruments have been developed to assess BPSD in different populations and settings. Although some of these tools are more widely used than others, no single instrument can be considered completely satisfactory, and each of these tools has its advantages and disadvantages.

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Unlabelled: Behavioral and Psychological Symptoms of Dementia (BPSD) are a heterogeneous set of psychological and behavioral abnormalities seen in persons with dementia (PwD), significantly impacting their quality of life and that of their caregivers. Current assessment tools, such as the Neuropsychiatric Inventory (NPI), are limited by recall bias and lack of direct observation. This study aims to overcome this limitation by making caregiver reports more objective through the use of a novel instrument, referred to as the BPSDiary.

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Background: Semantic behavioral variant frontotemporal dementia (sbvFTD) is a neurodegenerative condition presenting with specific behavioral and semantic derangements and predominant atrophy of the right anterior temporal lobe (ATL). The objective was to evaluate clinical, neuropsychological, neuroimaging, and genetic features of an Italian sbvFTD cohort, defined according to recently proposed guidelines, compared to semantic variant primary progressive aphasia (svPPA) and behavioral variant FTD (bvFTD) patients.

Methods: Fifteen sbvFTD, sixty-three bvFTD, and twenty-five svPPA patients and forty controls were enrolled.

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We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this mutation in a single clinical case led to a comprehensive investigation involving four affected siblings allowing to elucidate the mutation's phenotypic expression.A 60-year-old male presented with significant behavioral changes and progressed rapidly, exhibiting speech difficulties and cognitive decline.

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Background: Neurosarcoidosis occurs symptomatically in 5-10% of patients with sarcoidosis, and hydrocephalus is a rare complication of neurosarcoidosis, with either acute or subacute onset and presenting symptoms related to increased intracranial pressure. It represents a potentially fatal manifestation with a mortality rate of 22% (increased to 75% in case of coexistence of seizures) that requires a prompt initiation of treatment. High-dose intravenous corticosteroid treatment and neurosurgical treatment must be considered in all cases of neurosarcoidosis hydrocephalus.

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In this narrative review, we delve into the evolving concept of brain health, as recognized by the WHO, focusing on its intersection with cognitive decline. We emphasize the imperative need for preventive strategies, particularly in older adults. We describe the target population that might benefit the most from risk-based approaches-namely, people with subjective cognitive decline.

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  • Corticobasal syndrome (CBS) is a complex brain condition that needs special tests to be correctly diagnosed.
  • Researchers reviewed studies to see if testing fluids from the brain and blood could help diagnose CBS better.
  • The findings suggest using certain markers could improve how doctors diagnose CBS and choose treatments in the future.
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  • Scientists studied over 176,000 people to see how certain genes might protect against Parkinson's disease (PD) and Alzheimer's disease (AD).
  • They found that specific types of a gene called HLA could help reduce the risk of these diseases and lower harmful proteins in the brain.
  • This suggests that our immune system might help protect us from PD and AD, which could lead to new treatments in the future.
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Background: Traditional board games can entail significant skills encompassing several cognitive functions across different domains. Therefore, they may potentially represent effective cognitive interventions in the aging population with or without Alzheimer's disease or other types of dementia.

Objective: We aimed at verifying the hypothesis that traditional board games can prevent or slow down cognitive decline, through a systematic review on traditional board games and dementia.

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Background: Neuroinflammation is one of the cardinal mechanisms of Alzheimer's disease (AD). with amyloid-β (Aβ) playing a critical role by activating microglia to produce soluble inflammatory mediators, including several chemokines. Peripheral monocytes are, therefore, attracted into the central nervous system (CNS), where they change into blood-born microglia and participate in the attempt of removing toxic Aβ species.

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Objective: The purpose of this study was to evaluate cholesterol esterification and HDL subclasses in plasma and cerebrospinal fluid (CSF) of Alzheimer's disease (AD) patients.

Methods: The study enrolled 70 AD patients and 74 cognitively normal controls comparable for age and sex. Lipoprotein profile, cholesterol esterification, and cholesterol efflux capacity (CEC) were evaluated in plasma and CSF.

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  • An estimated 40% of dementia cases might be preventable by altering 12 specific risk factors throughout a person's life, although there's insufficient evidence for many of them.
  • The study aims to identify causal relationships between modifiable risk factors for Alzheimer’s disease (AD) to encourage new treatment options and better prevention strategies.
  • Researchers analyzed data from over 39,000 AD patients and 401,000 controls, finding that higher genetically determined levels of HDL cholesterol and systolic blood pressure were linked to an increased risk of developing AD.
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Background: The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on the ALS Cognitive Behavioral Screen (ALS-CBS™) in an Italian cohort of non-demented ALS patients.

Methods: ALS-CBS™ and ECAS scores of 293 ALS patients without frontotemporal dementia were retrospectively retrieved. Concurrent validity of the ALS-CBS™ towards the ECAS was tested by covarying for demographics, disease duration and severity, presence of C9orf72 hexanucleotide repeat expansion and behavioural features.

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Background And Objectives: MRI connectomics is an ideal tool to test a network-based model of pathologic propagation from a disease epicenter in neurodegenerative disorders. In this study, we used a novel graph theory-based MRI paradigm to explore functional connectivity reorganization, discerning between direct and indirect connections from disease epicenters, and its relationship with neurodegeneration across clinical presentations of the frontotemporal dementia (FTD) spectrum, including behavioral variant of FTD (bvFTD), nonfluent variant of primary progressive aphasia (nfvPPA), and semantic variant of primary progressive aphasia (svPPA).

Methods: In this observational cross-sectional study, disease epicenters were defined as the peaks of atrophy of a cohort of patients with high confidence of frontotemporal lobar degeneration pathology (Mayo Clinic).

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  • Published studies on the impact of HFE polymorphisms on ALS (Amyotrophic Lateral Sclerosis) risk, phenotype, and survival remain inconclusive, prompting an evaluation of the p.H63D polymorphism in patients with -mutated ALS.
  • The study involved 183 -mutated ALS patients, assessing mutation severity and conducting survival analyses using methods like Kaplan-Meier and Cox proportional hazards modeling.
  • Results indicated that -mutated ALS patients with the p.H63D polymorphism had longer survival compared to non-carriers, regardless of factors like sex, age, and mutation severity, suggesting the polymorphism may influence disease progression.
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Hallucinations are common in neurodegenerative dementias, being present in a significant proportion of patients. Most of the available studies show that acetylcholinesterase inhibitors may be beneficial in preventing and treating hallucinations in patients with neurodegenerative and even psychiatric disorders, even though there are reports that they might also develop as an adverse effect of such therapy. However, a clear causal relationship for the latter association was not previously established.

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Background: The present investigation aimed at testing the psychometrics and diagnostics of the Italian version of the Caregiver Behavioral Questionnaire (CBQ) from the ALS Cognitive Behavioral Screen (ALS-CBS™), as well as its case-control discrimination, in a cohort of non-demented patients with ALS.

Methods: The caregivers of = 265 non-demented patients with ALS and = 99 healthy controls (HCs) were administered the CBQ and the Edinburgh Cognitive and Behavioural ALS Screen-Carer Interview (ECAS-CI). For = 98 patients, an in-depth behavioural/psychopathological assessment the Frontal Behavioural Inventory (FBI), the Dimensional Apathy Scale (DAS), the State and Trait Anxiety Inventory-Form Y (STAI-Y), and the Beck Depression Inventory (BDI) was also available.

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