Sebastiano ARCERI

@mondino.it

Neurology, Department of Nervous System and Behavioral Sciences
Fondazione Mondino, Istituto Neurologico Nazionale a carattere scientifico (IRCCS)

Sebastiano ARCERI


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https://researchid.co/sebastiano.arceri
15

Scopus Publications

Scopus Publications

  • Abnormal swallowing–breathing coordination is an electrokinesiographic feature of dysphagia in multiple system atrophy: a comparative study with Parkinson’s disease
    Massimiliano Todisco, Enrico Alfonsi, Sebastiano Arceri, Paolo Prunetti, Mauro Fresia, et al.
    Journal of Neural Transmission, 2026
  • Increased Cerebrospinal Fluid Biomarkers of Neurodegeneration in Acquired Progressive Ataxia and Palatal Tremor Following a Static Lesion: A Case Report
    Carlo Fazio, Simone Regalbuto, Sebastiano Arceri, Davide Comolli, Alessandra Calculli, et al.
    Movement Disorders Clinical Practice, 2025
  • Clinical correlates of obstructive sleep apnoea in idiopathic normal pressure hydrocephalus
    Simone Regalbuto, Roberta Zangaglia, Francesca Valentino, Massimiliano Todisco, Claudio Pacchetti, et al.
    European Journal of Neurology, 2024
    Background and purposeThe pathogenesis of idiopathic normal pressure hydrocephalus (iNPH) remains controversial. Limited studies have indicated a high prevalence of obstructive sleep apnoea (OSA) amongst iNPH patients. The aim was to investigate the clinical correlates of OSA in iNPH patients.MethodsIn this cross‐sectional observational study, consecutive iNPH patients were prospectively enrolled. Evaluations included the iNPH Rating Scale, the Movement Disorder Society Unified Parkinson's Disease Rating Scale part III, the time and number of steps to walk 10 m, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, a complete neuropsychological evaluation, 3‐T brain MRI, full‐night video‐polysomnography, tap test and cerebrospinal fluid (CSF) neurodegeneration biomarkers.ResultsFifty‐one patients were screened, of whom 38 met the inclusion criteria. Amongst the recruited patients, 19/38 (50%) exhibited OSA, with 12/19 (63.2%) presenting moderate to severe disorder. OSA+ iNPH patients required more time (p = 0.02) and more steps (p = 0.04) to complete the 10‐m walking test, had lower scores on the gait subitem of the iNPH Rating Scale (p = 0.04) and demonstrated poorer performance on specific neuropsychological tests (Rey Auditory Verbal Learning Test immediate recall, p = 0.03, and Rey–Osterrieth Complex Figure, p = 0.01). Additionally, OSA+ iNPH patients had higher levels of total tau (p = 0.02) and phospho‐tau (p = 0.03) in their CSF but no statistically significant differences in beta‐amyloid (1–42) levels compared to OSA− iNPH patients.ConclusionObstructive sleep apnoea is highly prevalent in iNPH patients, particularly at moderate to severe levels. OSA is associated with worse motor and cognitive performance in iNPH. The CSF neurodegeneration biomarker profile observed in OSA+ iNPH patients may reflect OSA‐induced impairment of cerebral fluid dynamics.
  • Pseudo-Orthostatic Tremor in Graves’ Disease: A Possible Early Sign of Parkinsonism?
    Davide Comolli, Simone Regalbuto, Sebastiano Arceri, Giuseppe Trifirò, Alessandra Calculli, et al.
    Tremor and Other Hyperkinetic Movements, 2024
    Background: Pseudo-orthostatic tremor is a hyperkinetic movement disorder usually associated with other neurological comorbidities, mainly Parkinson’s disease. Case report: A 65-year-old male presented with unsteadiness and leg tremor while standing. Electrophysiological evaluation confirmed the presence of pseudo-orthostatic tremor. Blood test showed an undiagnosed Graves’ disease. A complete remission of tremor was achieved with methimazole. Dopamine transporter scintigraphy showed a mild reduction of the striatal binding, bilaterally. Discussion: Graves’ disease can be associated with pseudo-orthostatic tremor. Thyroid function should be assessed in patients complaining of unsteadiness. The causative role of hyperthyroidism in determining dopaminergic degeneration and uncovering subclinical parkinsonism warrants further investigations.
  • Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother
    Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, Samantha Bruno, Sebastiano Arceri, et al.
    American Journal of Medical Genetics Part A, 2024
    Brunner syndrome is a recessive X‐linked disorder caused by pathogenic variants in the monoamine oxidase A gene (MAOA). It is characterized by distinctive aggressive behavior, mild intellectual disability, sleep disturbances, and typical biochemical alterations deriving from the impaired monoamine metabolism. We herein describe a 5‐year‐old boy with developmental delay, autistic features, and myoclonic epilepsy, and his mother, who had mild intellectual disability and recurrent episodes of palpitations, headache, abdominal pain, and abdominal bloating. Whole exome sequencing allowed detection of the maternally‐inherited variant c.410A>G, (p.Glu137Gly) in the MAOA gene. The subsequent biochemical studies confirmed the MAOA deficiency both in the child and his mother. Given the serotonergic symptoms associated with high serotonin levels found in the mother, treatment with a serotonin reuptake inhibitor and dietary modifications were carried out, resulting in regression of the biochemical abnormalities and partial reduction of symptoms. Our report expands the phenotypic spectrum of Brunner disease, bringing new perspectives on the behavioral and neurodevelopmental phenotype from childhood to adulthood.
  • Parkinson disease following COVID-19: Report of six cases
    Alessandra Calculli, Tommaso Bocci, Mattia Porcino, Micol Avenali, Chiara Casellato, et al.
    European Journal of Neurology, 2023
    BACKGROUND Core clinical manifestation of COVID-19 include flu-like and respiratory symptoms. However, it is now evident that neurological involvement may occur during SARS-CoV-2 infection, covering an extensive spectrum of phenotypical manifestations. A major challenge arising from this pandemic is represented by detecting emerging neurological complications following recovery from SARS-CoV-2 infection. To date, few post-COVID-19 infected subjects diagnosed with Parkinson's Disease (PD) were described, raising the possibility of a connection between the infection and neurodegenerative process. Here, we describe a cases series of six subjects, who developed PD after COVID-19. METHODS Patients were observed at IRCCS Mondino Foundation Hospital, Pavia (Italy), and San Paolo University Hospital of Milan (Italy) between March 2021 and June 2022. In all subjects, SARS-CoV-2 infection was confirmed by means of a RT-PCR from a nasopharyngeal swab. Subjects underwent an accurate neurological evaluation, and neuroimaging studies were performed. RESULTS We describe six subjects, who developed PD with an average time window after SARS-CoV-2 infection of 4-7 weeks. Apparently, no relationship with COVID-19 severity emerged, and no overt structural brain abnormalities were found. All subjects experienced unilateral resting tremor at onset and showed a satisfactory response to dopaminergic treatment. CONCLUSIONS Immune responses to SARS-CoV-2 infection have been shown to shape the individual susceptibility to develop long-term consequences. We hypothesize that, in these subjects, COVID-19 has unmasked a latent neurodegenerative process. Characterization of the neuroinflammatory signatures in larger cohorts is warranted, which might provide novel insights in the pathogenesis of PD.
  • Chorea Associated with JAK2V617F-Positive Essential Thrombocythemia
    Alessandra Calculli, Sebastiano Arceri, Antonio Pisani
    Movement Disorders Clinical Practice, 2023
  • BoNT-A efficacy in high frequency migraine: an open label, single arm, exploratory study applying the PREEMPT paradigm
    Daniele Martinelli, Sebastiano Arceri, Roberto De Icco, Marta Allena, Elena Guaschino, et al.
    Cephalalgia, 2022
    Introduction In this open label, single-arm trial we evaluated the efficacy of onabotulinum toxin-A in the prevention of high-frequency episodic migraine (8–14 migraine days/month). Methods We enrolled 32 high-frequency episodic migraine subjects (age 44.8 ± 11.9 years, 11.0 ± 2.2 migraine days, 11.5 ± 2.1 headache days, 7 females). After a 28-day baseline period, subjects underwent 4 subsequent onabotulinum toxin-A treatments according to the phase III research evaluating migraine prophylaxis therapy (PREEMPT) paradigm, 12-weeks apart. The primary outcome was the reduction of monthly migraine days from baseline in the 12-week period following the last onabotulinum toxin-A treatment Results Onabotulinum toxin-A reduced monthly migraine days by 3.68 days (−33.1%, p < 0.01). Thirty-nine percent of the patients experienced a ≥50% reduction in monthly migraine days. Onabotulinum toxin-A also reduced the number of headache days (−33.9%, p < 0.01) and the intake of acute medications (−22.9%, p = 0.03). Disability and quality of life (QoL) scores improved markedly (migraine disability assessment (MIDAS) −41.7%; migraine specific questionnaire (MSQ) −31.7%, p < 0.01). Conclusions The findings suggest that, when administered according to the PREEMPT paradigm, onabotulinum toxin-A is effective in the prevention of high-frequency episodic migraine. Trial Registration: NCT04578782
  • Polymorphism in exercise genes and respiratory function in late-onset Pompe disease
    Sabrina Ravaglia, Alberto Malovini, Serena Cirio, Cesare Danesino, Paola De Filippi, et al.
    Journal of Applied Physiology, 2021
    Previous reports evaluated the role of exercise genes in influencing skeletal muscle phenotype and response to ERT in LOPD. Here, we investigate the role of polymorphisms in several exercise gene, focusing on respiratory muscles. ACE-DD and ACTN3-XX polymorphisms, possibly influencing muscle properties and fiber composition, were associated with more severe respiratory phenotypes.
  • COVID-19 in patients with myasthenia gravis: Epidemiology and disease course
    Pietro Businaro, Gloria Vaghi, Enrico Marchioni, Luca Diamanti, Sebastiano Arceri, et al.
    Muscle and Nerve, 2021
    Coronavirus disease 2019 (COVID‐19), a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection, has become a global pandemic. Patients with myasthenia gravis (MG), often treated with immunosuppressants, might be at higher risk of developing COVID‐19 and of demonstrating a severe disease course. We aimed to study prevalence and describe features of COVID‐19 in MG patients.
  • Buprenorphine may be effective for treatment of paramyotonia congenita
    Sabrina Ravaglia, Lorenzo Maggi, Antonio Zito, Sebastiano Arceri, Pietro Gallotti, et al.
    Muscle and Nerve, 2021
  • Isolated bulbar palsy after SARS-CoV-2 infection
    Massimiliano Todisco, Enrico Alfonsi, Sebastiano Arceri, Giulia Bertino, Carlo Robotti, et al.
    Lancet Neurology, 2021
  • KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset
    Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, Edoardo Errichiello, Sebastiano Arceri, et al.
    Parkinsonism and Related Disorders, 2020
  • Pitfals in recognition and management of trigeminal neuralgia
    F. Antonaci, S. Arceri, M. Rakusa, D. D. Mitsikostas, I. Milanov, et al.
    Journal of Headache and Pain, 2020
  • Chronic migraine and Botulinum Toxin Type A: Where do paths cross?
    Daniele Martinelli, Sebastiano Arceri, Livio Tronconi, Cristina Tassorelli
    Toxicon, 2020