102,533 research outputs found

    Cranial movement disorders: clinical features, pathophysiology, differential diagnosis and treatment

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    Cranial movement disorders are a common neurological problem. These disorders can be limited to the cranial muscles alone or manifest as part of a more generalized movement disorder. Cranial movement disorders can originate from the highest (motor cortex) to the lowest (cranial nerve and muscle) levels of the motor system. Owing to the lack of diagnostic tests and biomarkers for these disorders, their differential diagnosis can be difficult even for the experienced neurologist. Advances have, however, been made in the identification and treatment of these conditions, and most can be managed effectively with appropriate knowledge of the diagnostic signs and effective treatments. Here, we review the clinical features, pathophysiologies and therapies of the main movement disorders that affect the face, jaw, tongue and palate.Giovanni Fabbrini, Giovanni Defazio, Carlo Colosimo, Philip D. Thompson and Alfredo Berardell

    Progressive supranuclear palsy, multiple system atrophy and corticobasal degeneration

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    Progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD) are forms of parkinsonism. PSP and CBD are 4R tauopathies and clinicopathologic overlaps exist between these two disorders. Neuropsychiatric symptoms including apathy, depression, anxiety are common features in patients with PSP and CBD. Disinhibition and impulsive behavior are also frequently observed in PSP patients, whereas hallucinations are seen only occasionally. Severe derangement in several neurotransmitter systems may account for behavioral symptoms observed in PSP and CBD, but substitutive therapy is not effective. Recent advances in genetics, epidemiology, biomarkers, pathophysiology, molecular mechanisms, and, in particular, the availability of treatments that may modify disease progression are opening new hopes in the care of these devastating disorders. MSA is a synucleinopathy with well characterized motor and autonomic dysfunction. MSA patients frequently show the presence of rapid eye movement (REM) behavior disorders, but the impact of neuropsychiatric disturbances and cognitive impairment in MSA needs further study. The availability of animal models and recent advances in the pathophysiology of α-synuclein accumulation are shedding light on the disease, opening new avenues for possible treatments

    The Streptococcus agalactiae complement interfering protein combines multiple complement-inhibitory mechanisms by interacting with both C4 and C3 ligands

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    Group B Streptococcus (GBS) colonizes the human lower intestinal and genital tracts and constitutes a major threat to neonates from pregnant carrier mothers and to adults with underlying morbidity. The pathogen expresses cell-surface virulence factors that enable cell adhesion and penetration and that counteract innate and adaptive immune responses. Among these, the complement interfering protein (CIP) was recently described for its capacity to interact with the human C4b ligand and to interfere with the classical- and lectin-complement pathways. In the present study, we provide evidence that CIP can also interact with C3, C3b, and C3d. Immunoassay-based competition experiments showed that binding of CIP to C3d interferes with the interaction between C3d and the complement receptor 2/cluster of differentiation 21 (CR2/CD21) receptor on B cells. By B-cell intracellular signaling assays, CIP was confirmed to down-regulate CR2/CD21-dependent B-cell activation. The CIP domain involved in C3d binding was mapped via hydrogen deuterium exchange–mass spectrometry. The data obtained reveal a new role for this GBS polypeptide at the interface between the innate and adaptive immune responses, adding a new member to the growing list of virulence factors secreted by gram-positive pathogens that incorporate multiple immunomodulatory functions.—Giussani, S., Pietrocola, G., Donnarumma, D., Norais, N., Speziale, P., Fabbrini, M., Margarit, I. The Streptococcus agalactiae complement interfering protein combines multiple complement-inhibitory mechanisms by interacting with both C4 and C3 ligands

    Mauro, E.; Levi, L.; Fabbrini, S. & Pasquino, G. (2023). La Formazione del Sistema Partitico Europeo – The Formation of the European Party System

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    BOOK REVIEW OF:  Mauro, E.; Levi, L.; Fabbrini, S. & Pasquino, G. La Formazione del Sistema Partitico Europeo – The Formation of the European Party System Latina, Atlantide Editore, 2023, 120 p. ISBN: 978-88-99580-88-

    Facial bradykinesia

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    The aim of this paper is to summarise the main clinical and pathophysiological features of facial bradykinesia in Parkinson's disease (PD) and in atypical parkinsonism. Clinical observation suggests that reduced spontaneous and emotional facial expressions are features of facial bradykinesia in PD and atypical parkinsonism. In atypical parkinsonism, facial bradykinesia is complicated by additional dystonic features. Experimental studies evaluating spontaneous and emotional facial movements demonstrate that PD is characterised by a reduction in spontaneous blinking and emotional facial expression. In PD, neurophysiological studies show that voluntary orofacial movements are smaller in amplitude and slower in velocity. In contrast, movements of the upper face (eg, voluntary blinking) are normal in terms of velocity and amplitude but impaired in terms of switching between the closing and opening phases. In progressive supranuclear palsy (PSP), voluntary blinking is not only characterised by a severely impaired switching between the closing and opening phases of voluntary blinking, but is also slow in comparison with PD. In conclusion, in PD, facial bradykinesia reflects abnormalities of spontaneous, emotional and voluntary facial movements. In PSP, spontaneous and voluntary facial movements are abnormal but experimental studies on emotional facial movements are lacking. Data on facial bradykinesia in other atypical parkinsonism diseases, including multiple system atrophy and corticobasal degeneration, are limited. In PD, facial bradykinesia is primarily mediated by basal ganglia dysfunction whereas in PSP, facial bradykinesia is a consequence of a widespread degeneration involving the basal ganglia, cortical and brainstem structures.Matteo Bologna, Giovanni Fabbrini, Luca Marsili, Giovanni Defazio, Philip D Thompson, Alfredo Berardell

    Parkinson's disease among migrants in Europe: estimating the magnitude of an emerging phenomenon

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    INTRODUCTION: The occurrence of age-related pathological conditions among subjects with a migration background and composing ethnic minorities is an emerging challenge for Western countries. Specifically, the onset of neurodegenerative diseases in these populations of individuals might assume special relevance and generate additional complexities for our healthcare systems. The aim of the present study was to estimate the number of Parkinson's disease (PD) cases in migrant subjects living in Europe. METHODS: The estimated cases of PD among ≥ 50-year-old migrants living in Europe, and in each of the 32 considered countries, were calculated by multiplying the number of migrants (derived by the Eurostat data) with the age-specific prevalence rates of PD (obtained by a recent meta-analysis). RESULTS: Nearly 20 million migrants ≥ 50 years lived in Europe in 2017. The application of the age-specific prevalence rates led to the estimation of 129,645 overall PD cases in this population, accounting for the 8% of overall PD cases in Europe. National estimates widely ranged from 36 cases in Iceland to 29,390 cases in France. CONCLUSION: The present findings suggest that the occurrence of PD in migrants and minority groups already constitutes an important issue for European healthcare systems and will assume further relevance given the rapidly evolving sociodemographic scenario. Characterizing the phenomenon at the "real world" level and implementing coordinated initiatives and strategies represent novel but pressing needs for our countries
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