Stefano Gazzina
A5022084365- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Parkinson's Disease Mechanisms and Treatments
- Functional Brain Connectivity Studies
- Long-Term Effects of COVID-19
- Advanced Neuroimaging Techniques and Applications
- Epilepsy research and treatment
- Neurological disorders and treatments
- Neuroscience and Neuropharmacology Research
- Prion Diseases and Protein Misfolding
- Neurobiology of Language and Bilingualism
- Neurological diseases and metabolism
- COVID-19 Clinical Research Studies
- Pharmacological Effects and Toxicity Studies
- Intensive Care Unit Cognitive Disorders
- Neurogenetic and Muscular Disorders Research
- Advanced MRI Techniques and Applications
- Peripheral Neuropathies and Disorders
- Transcranial Magnetic Stimulation Studies
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Cholinesterase and Neurodegenerative Diseases
- COVID-19 and Mental Health
- Cerebrospinal fluid and hydrocephalus
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2020-2025
Gordon Center for Medical Imaging
2023
Massachusetts General Hospital
2023
University of Brescia
2013-2022
University of Antwerp
2022
KU Leuven
2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2022
Fondazione Poliambulanza Istituto Ospedaliero
2020
University of Cambridge
2019-2020
Erasmus MC
2019-2020
Abstract The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct trajectories. Here we introduce machine-learning technique—Subtype Stage Inference (SuStaIn)—able uncover data-driven with temporal progression patterns, from widely available cross-sectional patient studies. Results imaging studies in two reveal subgroups their trajectories regional...
Coronavirus disease 2019 (COVID-19) infection has the potential for targeting central nervous system, and several neurological symptoms have been described in patients with severe respiratory distress. Here, we case of a 60-year-old patient acute syndrome coronavirus 2 (SARS-CoV-2) but only mild abnormalities who developed an akinetic mutism attributable to encephalitis. Magnetic resonance imaging was negative, whereas electroencephalography showed generalized theta slowing. Cerebrospinal...
To report clinical and laboratory characteristics, treatment, outcomes of patients admitted for neurologic diseases with without coronavirus disease 2019 (COVID-19).
Single cases and small series of Guillain-Barré syndrome (GBS) have been reported during the SARS-CoV-2 outbreak worldwide. We evaluated incidence clinical features GBS in a cohort patients from two regions northern Italy with highest number COVID-19.GBS diagnosed 12 referral hospitals Lombardy Veneto March April 2020 were retrospectively collected. As control population, 2019 same considered.Incidence was 0.202/100 000/month (estimated rate 2.43/100 000/year) vs 0.077/100 0.93/100 months...
This study aimed to assess whether non-invasive brain stimulation with transcranial alternating current at gamma-frequency (γ-tACS) applied over the precuneus can improve episodic memory and modulate cholinergic transmission by modulating cerebral rhythms in early Alzheimer's disease (AD).In this randomized, double-blind, sham controlled, crossover study, 60 AD patients underwent a clinical neurophysiological evaluation including assessment of pre post minutes treatment γ-tACS targeting or...
Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms FTD (mutations in C9orf72, GRN, MAPT). Participants from the Genetic Initiative (GENFI) cohort suitable volumetric T1 magnetic resonance imaging scan included (319): 144 nonmutation carriers, 128 presymptomatic mutation 47 clinically affected carriers. Cross-sectional GM volume between...
Objective To assess the diagnostic and prognostic value of serum neurofilament light (NfL) phospho-Tau 181 (p-Tau ) in a large cohort patients with frontotemporal lobar degeneration (FTLD). Methods In this retrospective study, performed on 417 participants, we analysed NfL p-Tau concentrations an ultrasensitive single molecule array (Simoa) approach. We assessed values biomarkers differential diagnosis between FTLD, Alzheimer’s disease (AD) healthy ageing; their role as markers severity...
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),...
It is still unknown if serum glial fibrillary acidic protein (GFAP) a useful marker in frontotemporal lobar degeneration (FTLD). To assess the diagnostic and prognostic value of GFAP large cohort patients with FTLD. In this retrospective study, performed on 406 participants, we measured concentration an ultrasensitive Single molecule array (Simoa) method FTLD, Alzheimer's disease (AD), cognitively unimpaired elderly controls. We assessed role as severity by analyzing correlation clinical...
Behavioral disturbances are core features of frontotemporal dementia (FTD); however, symptom progression across the course disease is not well characterized in genetic FTD.To investigate behavioral frequency and severity their evolution different forms FTD.This longitudinal cohort study, international Genetic FTD Initiative (GENFI), was conducted from January 30, 2012, to May 31, 2019, at 23 multicenter specialist tertiary research clinics United Kingdom, Netherlands, Belgium, France, Spain,...
Connections among brain regions allow pathological perturbations to spread from a single source region multiple regions. Patterns of neurodegeneration in diseases, including behavioural variant frontotemporal dementia (bvFTD), resemble the large-scale functional systems, but how bvFTD-related atrophy patterns relate structural network organization remains unknown. Here we investigate whether sporadic and genetic bvFTD are conditioned by connectome architecture. Regional were estimated both...
Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported presence of cerebral white matter hyperintensities (WMH) genetic FTD but this has not been systematically studied across different mutations. In study WMH were assessed 180 participants from Initiative (GENFI) with 3D T1- T2-weighed magnetic resonance images: 43...
In randomized controlled trials, add-on brivaracetam (BRV) reduced seizure frequency in patients with drug-resistant focal epilepsy. Studies performed a naturalistic setting are useful complement to characterize the drug profile. This multicentre study assessed effectiveness and tolerability of adjunctive BRV large population epilepsy context real-world clinical practice. The BRIVAFIRST (BRIVAracetam First Italian netwoRk STudy) was retrospective, including adult prescribed BRV. Patients...
Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between groups. 480 mutation carriers from Genetic FTD Initiative (GENFI) were included (198 GRN, 202 C9orf72, 80 MAPT), together with 298 non-carrier cognitively normal controls. Cortical volumes interest...
<h3>Background and Objective</h3> Mutations in the <i>MAPT</i> gene cause frontotemporal dementia (FTD). Most previous studies investigating neuroanatomical signature of mutations have grouped all different together shown an association with focal atrophy temporal lobe. The variability patterns between each particular mutation is less well-characterized. We aimed to investigate whether there were distinct groups carriers based on their signature. <h3>Methods</h3> applied Subtype Stage...
Abstract Several CSF and blood biomarkers for genetic frontotemporal dementia have been proposed, including those reflecting neuroaxonal loss (neurofilament light chain phosphorylated neurofilament heavy chain), synapse dysfunction [neuronal pentraxin 2 (NPTX2)], astrogliosis (glial fibrillary acidic protein) complement activation (C1q, C3b). Determining the sequence in which become abnormal over course of disease could facilitate staging help identify mutation carriers with prodromal or...
Many single cases and small series of Guillain-Barré syndrome (GBS) associated with severe acute respiratory coronavirus 2 (SARS-CoV-2) infection were reported during the disease 19 (COVID-19) outbreak worldwide. However, debate regarding possible role in causing GBS is still ongoing. This multicenter study aimed to evaluate epidemiological clinical findings diagnosed COVID-19 pandemic northeastern Italy order further investigate association between COVID-19.Guillain-Barré 14 referral...
Primary progressive aphasias (PPAs) are a group of neurodegenerative diseases mainly characterized by language impairment, and with variably presence dysexecutive syndrome, behavioural disturbances parkinsonism. Detailed knowledge neurotransmitters impairment its association clinical features hold the potential to develop new tailored therapeutic approaches. In present study, we applied JuSpace toolbox, which allowed for cross-modal correlation magnetic resonance imaging (MRI)-based measures...
Choroid plexus (ChP) is emerging as a key brain structure in the pathophysiology of neurodegenerative disorders. In this observational study, we investigated ChP volume large cohort patients with frontotemporal lobar degeneration (FTLD) spectrum to explore possible link between and other disease-specific biomarkers.
Abstract Background The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral motor impairment (MCBMI). objective study was to validate research MCBMI-FTD in a cohort genetically confirmed FTD cases against healthy controls. Methods A total 398 participants were enrolled, 117 whom carriers an pathogenic variant with symptoms, while 281 non-carrier family members...
Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around third of cases having autosomal dominant inheritance. There wide variability in phenotype even within affected families, raising questions about the determinants progression disease and age at onset. It has been recently demonstrated that cognitive reserve, as measured by years formal schooling, can counteract ongoing pathological process. The TMEM106B genotype also found to be modifier onset frontotemporal...
The presymptomatic phase of neurodegenerative diseases are characterized by structural brain changes without significant clinical features. We set out to investigate the contribution functional network resilience preserved cognition in genetic frontotemporal dementia. studied 172 people from families carrying abnormalities C9orf72, MAPT, or PGRN. Networks were extracted MRI data and assessed using graph theoretical analysis. found that despite loss both volume connections, there is...
Abstract Genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, C9orf72, GRN or MAPT, with presymptomatic carriers from families representing those at risk. While cerebral blood flow shows differences between and other dementia, there is limited evidence its utility stages dementia. This study aimed delineate the signature presymptomatic, genetic using a voxel-based approach. In multicentre GENetic Frontotemporal Initiative (GENFI) study, we investigated...