Sebastiano ARCERI
@mondino.it
Neurology, Department of Nervous System and Behavioral Sciences
Fondazione Mondino, Istituto Neurologico Nazionale a carattere scientifico (IRCCS)
Scopus Publications
Scopus Publications
Alessandra Calculli, Tommaso Bocci, Mattia Porcino, Micol Avenali, Chiara Casellato, Sebastiano Arceri, Simone Regalbuto, Alberto Priori, and Antonio Pisani
Wiley
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.
Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, Samantha Bruno, Sebastiano Arceri, Elisa Novello, Elisa Giorgio, Vittoria Rizzo, Renato Borgatti, Enza Maria Valente,et al.
Wiley
AbstractBrunner 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.
Alessandra Calculli, Sebastiano Arceri, and Antonio Pisani
Wiley
Daniele Martinelli, Sebastiano Arceri, Roberto De Icco, Marta Allena, Elena Guaschino, Natascia Ghiotto, Vito Bitetto, Gloria Castellazzi, Giuseppe Cosentino, Grazia Sances,et al.
SAGE Publications
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
Sabrina Ravaglia, Alberto Malovini, Serena Cirio, Cesare Danesino, Paola De Filippi, Maurizio Moggio, Tiziana Mongini, Lorenzo Maggi, Serena Servidei, Andrea Vianello,et al.
American Physiological Society
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.
Pietro Businaro, Gloria Vaghi, Enrico Marchioni, Luca Diamanti, Sebastiano Arceri, Paola Bini, Elena Colombo, Giuseppe Cosentino, Enrico Alfonsi, Alfredo Costa,et al.
Wiley
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.
Sabrina Ravaglia, Lorenzo Maggi, Antonio Zito, Sebastiano Arceri, Pietro Gallotti, Concetta Altamura, Jean Francois Desaphy, Pia Bernasconi, and Enrico Alfonsi
Wiley
Paramyotonia congenita (PMC) is a skeletal muscle sodium channelopathy characterized by paradoxical myotonia, cold sensitivity, and exercise/cold‐induced paralysis. Treatment with sodium‐channel–blocking antiarrhythmic agents may expose patients to a risk of arrhythmia or may be poorly tolerated or ineffective. In this study we explored the effectiveness of non‐antiarrhythmic sodium‐channel blockers in two patients with PMC.
Massimiliano Todisco, Enrico Alfonsi, Sebastiano Arceri, Giulia Bertino, Carlo Robotti, Michele Albergati, Matteo Gastaldi, Cristina Tassorelli, and Giuseppe Cosentino
Elsevier BV
Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, Edoardo Errichiello, Sebastiano Arceri, Micol Avenali, Enza Maria Valente, and Enrico Alfonsi
Elsevier BV
F. Antonaci, S. Arceri, M. Rakusa, D. D. Mitsikostas, I. Milanov, V. Todorov, M. Cotta Ramusino, A. Costa, and
Springer Science and Business Media LLC
Abstract Background Trigeminal neuralgia (TN) is a severe, disabling form of painful cranial neuropathy. Even though TN has a typical clinical picture, diagnosis it is often missed or delayed in clinical practice. In order to investigate the occurrence of diagnostic and therapeutic errors in TN, we studied 102 patients suffering from TN recruited through a multicentric survey. Methods We performed a Pubmed database search on errors and pittfalls in TN diagnosis and management. Then, patients with TN were consecutively enrolled in the period from February 2017 to October 2019, by several European Headache Centers participating in the study, following a call of the Headache and Pain Scientific Panels of the European Academy of Neurology (EAN). Diagnosis of Classical Trigeminal Neuralgia (CTN) was made according to the International Headache Society (IHS) criteria (Tölle et al., Pain Pract 6:153-160, 2006). All the patients were evaluated using telephone/frontal interviews conducted by headache/pain specialists using an ad hoc questionnaire. Results A number of 102 patients were recruited, mostly females (F:M ratio 2.64:1). Eighty-six percent of the patients consulted a physician at the time they experienced the first pain attacks. Specialists consulted before TN diagnosis were: primary care physicians (PCP) (43.1%), dentists (in 30.4%), otorhinolaryngologists (3.9%), neurosurgeons (3.9%), neurologists or headache specialists (14.7%), others (8%). The final diagnosis was made mainly by a neurologist or headache specialist (85.3%), and the mean interval between the disease onset and the diagnosis made by a specialist was 10.8 ± 21.2 months. The “diagnostic delay” was 7.2 ± 12.5 months, and misdiagnoses at first consultation were found in 42.1% of cases. Instrumental and laboratory investigations were carried out in 93.1% of the patients before the final diagnosis of TN. Conclusion While TN has typical features and it is well defined by the available international diagnostic criteria, it is still frequently misdiagnosed and mistreated. There is a need to improve the neurological knowledge in order to promptly recognize the clinical picture of TN and properly adhere to the specific guidelines. This may result in a favorable outcome for patients, whose quality of life is usually severely impaired.
Daniele Martinelli, Sebastiano Arceri, Livio Tronconi, and Cristina Tassorelli
Elsevier BV