Publications by authors named "Gazzina S"
Revised El Escorial (rEEC) and Awaji criteria are currently used for diagnosing and categorizing amyotrophic lateral sclerosis (ALS). However, they are complex; their sensitivity is still not optimal for research purposes, and they present high inter-rater variability in clinical practice. To address these points, in 2019, a new set of diagnostic criteria was proposed, namely the Gold Coast criteria (GCC), characterized by a dichotomous diagnostic categorization, i.
View Article and Find Full Text PDFPurpose: Screening for diabetic retinopathy (DR) by ophthalmologists is costly and labour-intensive. Artificial Intelligence (AI) for automated DR detection could be a clinically and economically alternative. We assessed the performance of a confocal fundus imaging system (DRSplus, Centervue SpA), coupled with an AI algorithm (RetCAD, Thirona B.
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- Large studies and specific electrophysiology techniques have helped identify various SCN2A-epilepsy phenotypes, their genetic connections, and their reactions to sodium channel blockers.
- One notable presentation of SCN2A variants is benign familial neonatal-infantile seizures (BFNIS), which typically occur within the first 23 months of life and often resolve within two years, sometimes with treatment.
- A recent case highlights a woman, originally diagnosed with BFNIS in infancy, who experienced additional seizures over 40 years later, suggesting SCN2A-related seizures may have implications in adulthood.
Article Synopsis
- Pathogenic heterozygous mutations in the GRN gene are a significant cause of frontotemporal dementia (FTD), leading to lower levels of the progranulin protein in biofluids, which has sparked therapeutic trials aimed at increasing these levels.
- A systematic review of literature on biofluid PGRN concentrations included data from 7071 individuals, primarily focusing on plasma PGRN levels derived from a single assay type, which accounted for variations based on mutation type, age, sex, and clinical diagnosis.
- Key findings established specific concentration cut-offs for plasma (74.8 ng/mL) and CSF (3.43 ng/mL) and indicated that plasma PGRN levels vary by mutation type,
Article Synopsis
- The study aimed to validate clinical criteria for diagnosing mild cognitive and/or behavioral and/or motor impairment (MCBMI) in cases suspected of frontotemporal dementia (FTD).
- A total of 398 participants were studied, including 117 FTD variant carriers with mild symptoms and 281 healthy controls, with some undergoing additional neurobiological assessments.
- The MCBMI criteria effectively distinguished between affected individuals and healthy controls, with classification accuracy improving significantly when incorporating blood neurofilament light levels and anterior cingulate atrophy measurements.
Introduction: Long-term weakness is common in survivors of COVID-19-associated acute respiratory distress syndrome (CARDS). We longitudinally assessed the predictors of muscle weakness in patients evaluated 6 and 12 months after intensive care unit discharge with in-person visits.
Methods: Muscle strength was measured by isometric maximal voluntary contraction (MVC) of the tibialis anterior muscle.
Unlabelled: The MUNIX technique allows us to estimate the number and size of surviving motor units (MUs). Previous studies on ALS found correlations between MUNIX and several clinical measures, but its potential role as a predictor of disease progression rate (DPR) has not been thoroughly evaluated to date. We aimed to investigate MUNIX's ability to predict DPR at a six-month follow up.
View Article and Find Full Text PDFBackground And Objectives: Choroid plexus (ChP) is emerging as a key brain structure in the pathophysiology of neurodegenerative disorders. In this observational study, we investigated ChP volume in a large cohort of patients with frontotemporal lobar degeneration (FTLD) spectrum to explore a possible link between ChP volume and other disease-specific biomarkers.
Methods: Participants included patients meeting clinical criteria for a probable syndrome in the FTLD spectrum.
Article Synopsis
- Patients who were in the ICU due to SARS-CoV-2 can experience muscle weakness for over a year after being discharged, with females showing more impairment than males.
- A study assessed physical functioning in groups of male and female patients at two different time points (3-6 months and 6-12 months post-discharge) and measured factors like fatigue, strength, and neural drive.
- Results indicated no significant sex differences in the early follow-up, but by 6-12 months, females had noticeably greater impairments in strength and overall physical functioning, highlighting the need to consider sex in post-COVID rehabilitation efforts.
Primary progressive aphasias (PPAs) are a group of neurodegenerative diseases mainly characterized by language impairment, and with variably presence of dysexecutive syndrome, behavioural disturbances and parkinsonism. Detailed knowledge of neurotransmitters impairment and its association with clinical features hold the potential to develop new tailored therapeutic approaches. In the present study, we applied JuSpace toolbox, which allowed for cross-modal correlation of magnetic resonance imaging (MRI)-based measures with nuclear imaging derived estimates covering various neurotransmitter systems including dopaminergic, serotonergic, noradrenergic, GABAergic and glutamatergic neurotransmission.
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- The study explores key differences between familial frontotemporal dementia (f-FTD) and sporadic frontotemporal dementia (s-FTD), particularly in clinical features, biomarkers, and survival rates.
- A total of 570 patients were analyzed, revealing that f-FTD patients generally have worse behavioral disturbances, higher serum neurofilament light (NfL) concentrations, and more significant brain atrophy compared to s-FTD patients.
- The findings suggest that while f-FTD and s-FTD are similar clinically, they exhibit distinct biological characteristics that may influence treatment approaches.
Article Synopsis
- * GBS cases from March 2020 to March 2021 showed a 59% increase compared to the previous year, with approximately 50% of GBS patients testing positive for COVID-19.
- * The study concluded that GBS incidence rose during the pandemic, indicating a significant association between GBS and COVID-19, as non-COVID-19 GBS cases decreased during the same period.
Objective: This study aimed to assess whether non-invasive brain stimulation with transcranial alternating current stimulation 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).
Methods: In this randomized, double-blind, sham controlled, crossover study, 60 AD patients underwent a clinical and neurophysiological evaluation including assessment of episodic memory and cholinergic transmission pre and post 60 minutes treatment with γ-tACS targeting the precuneus or sham tACS. In a subset of 10 patients, EEG analysis and individualized modelling of electric field distribution were carried out.
Article Synopsis
- The study investigates frontotemporal dementia linked to granulin (GRN) mutations, focusing on brain connectivity patterns using graph theory measures in different groups: symptomatic carriers, presymptomatic carriers, and non-carriers.
- It finds that symptomatic carriers show significant global connectivity issues, while presymptomatic carriers display early signs of interhemispheric disconnection between parietal regions, despite not showing overall connectivity changes.
- The findings imply that GRN-related frontotemporal dementia develops as a disconnection syndrome, starting with parietal areas before advancing to frontotemporal regions as symptoms become apparent.
Background: Magnetic resonance imaging (MRI) measures may be used as outcome markers in frontotemporal dementia (FTD).
Objectives: To predict MRI cortical thickness (CT) at follow-up at the single subject level, using brain MRI acquired at baseline in preclinical FTD.
Methods: 84 presymptomatic subjects carrying Granulin mutations underwent MRI scans at baseline and at follow-up (31.
The presymptomatic brain changes of granulin (GRN) disease, preceding by years frontotemporal dementia, has not been fully characterized. New approaches focus on the spatial chronnectome can capture both spatial network configurations and their dynamic changes over time. To investigate the spatial dynamics in 141 presymptomatic GRN mutation carriers and 282 noncarriers from the Genetic Frontotemporal dementia research Initiative cohort.
View Article and Find Full Text PDFObjective: To assess whether patients with acute inflammatory demyelinating polyneuropathy (AIDP) associated with SARS-CoV-2 show characteristic electrophysiological features.
Methods: Clinical and electrophysiological findings of 24 patients with SARS-CoV-2 infection and AIDP (S-AIDP) and of 48 control AIDP (C-AIDP) without SARS-CoV-2 infection were compared.
Results: S-AIDP patients more frequently developed respiratory failure (83.
Importance: Behavioral disturbances are core features of frontotemporal dementia (FTD); however, symptom progression across the course of disease is not well characterized in genetic FTD.
Objective: To investigate behavioral symptom frequency and severity and their evolution and progression in different forms of genetic FTD.
Design, Setting, And Participants: This longitudinal cohort study, the international Genetic FTD Initiative (GENFI), was conducted from January 30, 2012, to May 31, 2019, at 23 multicenter specialist tertiary FTD research clinics in the United Kingdom, the Netherlands, Belgium, France, Spain, Portugal, Italy, Germany, Sweden, Finland, and Canada.
Introduction: The presymptomatic phase of neurodegenerative disease can last many years, with sustained cognitive function despite progressive atrophy. We investigate this phenomenon in familial frontotemporal dementia (FTD).
Methods: We studied 121 presymptomatic FTD mutation carriers and 134 family members without mutations, using multivariate data-driven approach to link cognitive performance with both structural and functional magnetic resonance imaging.
Objective: Single cases and small series of Guillain-Barré syndrome (GBS) have been reported during the SARS-CoV-2 outbreak worldwide. We evaluated incidence and clinical features of GBS in a cohort of patients from two regions of northern Italy with the highest number of patients with COVID-19.
Methods: GBS cases diagnosed in 12 referral hospitals from Lombardy and Veneto in March and April 2020 were retrospectively collected.
A wide range of neurological signs and symptoms have been associated with SARS-CoV-2 infection. In the present report, we described two Italian patients diagnosed with diaphragmatic myoclonus after COVID-19. In both cases, mild lymphocytosis at cerebrospinal fluid analysis and no structural brain changes were reported.
View Article and Find Full Text PDFCOVID-19 impact on consecutive neurological patients admitted to the emergency department.
J Neurol Neurosurg Psychiatry
February 2021
Background: It is still unknown if serum glial fibrillary acidic protein (GFAP) is a useful marker in frontotemporal lobar degeneration (FTLD).
Objective: To assess the diagnostic and prognostic value of serum GFAP in a large cohort of patients with FTLD.
Methods: In this retrospective study, performed on 406 participants, we measured serum GFAP concentration with an ultrasensitive Single molecule array (Simoa) method in patients with FTLD, Alzheimer's disease (AD), and in cognitively unimpaired elderly controls.