Publications by authors named "Francesca Trojsi"

Transcranial magnetic stimulation (TMS) methods have become exciting techniques for altering brain activity and improving synaptic plasticity, earning recognition as valuable non-medicine treatments for a wide range of neurological disorders. Among these methods, repetitive TMS (rTMS) and theta-burst stimulation (TBS) show significant promise in improving outcomes for adults with complex neurological and neurodegenerative conditions, such as Alzheimer's disease, stroke, Parkinson's disease, etc. However, optimizing their effects remains a challenge due to variability in how patients respond and a limited understanding of how these techniques interact with crucial neurotransmitter systems.

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Background And Purpose: 'Neurovascular coupling' (NVC) alterations, assessing the interplay between local cerebral perfusion and neural activity within a given brain region or network, may reflect neurovascular unit impairment in amyotrophic lateral sclerosis (ALS). The aim was to explore NVC as a correlation between the functional connectivity and cerebral blood flow within the large-scale resting-state functional magnetic resonance imaging brain networks in a sample of ALS patients compared to healthy controls (HCs).

Methods: Forty-eight ALS patients (30 males; mean age 60.

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  • Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
  • Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
  • Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.
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  • Research indicates that patients with migraine with aura exhibit increased activity in visual cortices but struggle with adequate vascular supply during triggers, which may lead to aura symptoms.
  • A study involving MRI assessed cerebral blood flow and connectivity in patients with migraine with and without aura, along with healthy controls.
  • Results showed heightened blood flow in the visual cortex of migraine with aura patients, along with decreased neurovascular coupling, suggesting a misalignment between energy demand and supply in the brain.
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: Repetitive transcranial magnetic stimulation (rTMS) has shown therapeutic effects in neurological patients by inducing neural plasticity. In this pilot study, we analyzed the modifying effects of high-frequency (HF-)rTMS applied to the dorsolateral prefrontal cortex (DLPFC) of patients with mild cognitive impairment (MCI) using an advanced approach of functional connectome analysis based on network control theory (NCT). : Using local-to-global functional parcellation, average and modal controllability (AC/MC) were estimated for DLPFC nodes of prefrontal-lateral control networks (R/LH_Cont_PFCl_3/4) from a resting-state fMRI series acquired at three time points (T0 = baseline, T1 = T0 + 4 weeks, T2 = T1 + 20 weeks) in MCI patients receiving regular daily sessions of 10 Hz HF-rTMS ( = 10, 68.

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In preclinical studies, the anti-inflammatory drug colchicine, which has never been tested in amyotrophic lateral sclerosis, enhanced the expression of autophagy factors and inhibited accumulation of transactive response DNA-binding protein 43 kDa, a known histopathological marker of amyotrophic lateral sclerosis. This multicentre, randomized, double-blind trial enrolled patients with probable or definite amyotrophic lateral sclerosis who experienced symptom onset within the past 18 months. Patients were randomly assigned in a 1:1:1 ratio to receive colchicine at a dose of 0.

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Background And Purpose: Susceptibility estimates derived from quantitative susceptibility mapping (QSM) images for the cerebral cortex and major subcortical structures are variably reported in brain magnetic resonance imaging (MRI) studies, as average of all ( ), absolute ( ), or positive- ( ) and negative-only ( ) susceptibility values using a region of interest (ROI) approach. This pilot study presents a reliability analysis of currently used ROI-QSM metrics and an alternative ROI-based approach to obtain voxel-weighted ROI-QSM metrics ( and ).

Methods: Ten healthy subjects underwent repeated (test-retest) 3-dimensional multi-echo gradient-echo (3DMEGE) 3 Tesla MRI measurements.

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Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3.

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  • ALS is a serious and fatal disease affecting motor neurons, and the FDA recently approved tofersen for treating adults with SOD1 gene mutations.
  • A study measured selenium levels in the cerebrospinal fluid of ALS patients before and after tofersen treatment, using advanced mass spectrometry techniques.
  • Results showed that tofersen significantly increased selenium concentrations, suggesting it may impact the brain's redox status, indicating a need for further research on the drug's effects and disease progression.
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Objective: To test the hypothesis that patients affected by Amyotrophic Lateral Sclerosis (ALS) show an altered spatio-temporal spreading of neuronal avalanches in the brain, and that this may related to the clinical picture.

Methods: We obtained the source-reconstructed magnetoencephalography (MEG) signals from thirty-six ALS patients and forty-two healthy controls. Then, we used the construct of the avalanche transition matrix (ATM) and the corresponding network parameter nodal strength to quantify the changes in each region, since this parameter provides key information about which brain regions are mostly involved in the spreading avalanches.

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Introduction: Although the landscape of migraine symptomatic treatment has been enriched by novel effective drugs, it is mandatory to critically reappraise older molecules to ascertain whether they could still represent reliable alternatives in specific endophenotypes of patients or migraine attacks. Among these, dihydroergotamine (DHE) nasal spray has been shown to be effective and is characterized by greater tolerability and manageability than the parenteral DHE formulation.

Areas Covered: In this narrative review, the authors describe the pharmacodynamic and pharmacokinetic properties of DHE nasal spray and explore the results of the trials which explored its efficacy, safety and tolerability as migraine symptomatic treatment.

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  • A study was conducted to compare the empathy and satisfaction levels of people with Multiple Sclerosis (PwMS) towards responses from neurologists versus ChatGPT for common questions.
  • The results showed that ChatGPT's responses were perceived as more empathetic than those from neurologists, although no significant difference in overall satisfaction was found.
  • The study suggests that while AI like ChatGPT can enhance patient interactions, physicians need to adapt to digital advancements and guide patients in effectively using AI tools in healthcare.
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Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive brain stimulation technique also used as a non-pharmacological intervention against cognitive impairment. The purpose of the present review was to summarize what is currently known about the effectiveness of rTMS intervention on different cognitive domains in patients with mild cognitive impairment (MCI) and to address potential neuromodulation approaches in combination with electroencephalography (EEG) and neuroimaging, especially functional magnetic resonance imaging (fMRI). In this systematic review, we consulted three main databases (PubMed, Science Direct, and Scopus), and Google Scholar was selected for the gray literature search.

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Introduction: Fatigue is defined as a symptom of exhaustion unexplained by drug effects or psychiatric disorders and comprises two main components (i.e., central or "mental" and peripheral or "physical" components), both influencing global disability in amyotrophic lateral sclerosis (ALS).

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Neurodegeneration is a multifactorial process that involves multiple mechanisms. Examples of neurodegenerative diseases are Parkinson's disease, multiple sclerosis, Alzheimer's disease, prion diseases such as Creutzfeldt-Jakob's disease, and amyotrophic lateral sclerosis. These are progressive and irreversible pathologies, characterized by neuron vulnerability, loss of structure or function of neurons, and even neuron demise in the brain, leading to clinical, functional, and cognitive dysfunction and movement disorders.

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  • Migraine is a significant health issue that leads to a lot of disability, and effective preventive strategies are essential for improving patients' quality of life.
  • Previously used preventive medications for migraines often had poor side effects, but new treatments like monoclonal antibodies and gepants show better efficacy and safety.
  • However, cost-effectiveness concerns limit the use of these new treatments to only the more severe cases of migraine, alongside ongoing worries about their long-term effects and economic viability.
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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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Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive neuromodulation technique that is used against cognitive impairment in mild cognitive impairment (MCI) and Alzheimer's disease (AD). However, the neurobiological mechanisms underlying the rTMS therapeutic effects are still only partially investigated. Maladaptive plasticity, glial activation, and neuroinflammation, including metalloproteases (MMPs) activation, might represent new potential targets of the neurodegenerative process and progression from MCI to AD.

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Objective: In this context, our study aimed to ascertain whether the esterification of 24-hydroxycholesterol, a process heavily affected by oxidative stress, is altered in ALS.

Methods: The study examined the level of 24-hydroxycholesteryl esters in cerebrospinal fluid and plasma of 18 ALS patients by spectroscopic technique as Ultra-high performance liquid chromatography mass spectrometry (UPLC-MS).

Results: The level of 24-hydroxycholesteryl esters in cerebrospinal fluid was found to be lower as the brain-blood barrier was damaged.

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Background: Cluster headache is commonly reported to follow an annual pattern with a peak in the spring and a second peak in autumn. Patients with headache frequently use search engines, such as Google, to look for terms related to their disease, creating trend data that can be analyzed with Google Trends. Indeed, Google Trends has been used for surveillance studies and can provide indirect estimates of the burden of diseases and symptoms.

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Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurological signs such as mild weakness or sensory deficits. The COVID-19 pandemic has disrupted healthcare delivery worldwide, necessitating rapid measures implementation by health care providers (HCPs) to protect patients from acquiring SARS-CoV-2 while maintaining the best care and treatment.

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Pseudobulbar affect (PBA), referring to exaggerated or inappropriate episodes of laughing and/or crying without an apparent motivating stimulus, has been mainly attributed to bilateral degeneration of corticobulbar tracts. We aimed at exploring brain functional connectivity (FC) correlates of PBA in patients with amyotrophic lateral sclerosis (ALS), the most common motor neuron disease, frequently associated with PBA. Resting state functional MRI (RS-fMRI) independent component (ICA) and seed-based analyses and voxel-based morphometry (VBM) whole-brain analysis were performed on 27 ALS patients (13 with PBA; 14 without PBA) and 26 healthy controls (HC), for investigating functional and structural abnormalities in ALS patients compared to HC and in patients with PBA compared to patients without PBA.

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