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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

Giardina Emiliano,2,3 Stefania Zampatti,1,2 Nicola Modugno,1 Francesco Fabbiano,1 Francesco Fornai,1,4 Diego Centonze,1 and Stefano Ruggieri1 1IRCCS Neuromed, Pozzilli, Italy 2Molecular Genetics Laboratory ... project. Diego Centonze, Nicola Modugno, and Francesco Fabbiano organized the clinical data. Rosangela Ferese and Simona Scala were responsible for the next-generation sequencing design. Stefania Carboni

Management of flu-like syndrome with cetirizine in patients with relapsing-remitting multiple sclerosis during therapy with interferon beta: Results of a randomized, cross-over, placebo-controlled pilot study

Background Flu-like syndrome (FLS) is a common adverse event experienced by patients with relapsing-remitting multiple sclerosis (RRMS) treated with interferon beta (IFNβ). FLS can lead to poor treatment adherence and early IFNβ discontinuation. The involvement of interleukin-6 (IL-6) in the occurrence of FLS has been suggested. We hypothesized that cetirizine, a second...

Efficacy of fingolimod and interferon beta-1b on cognitive, MRI, and clinical outcomes in relapsing–remitting multiple sclerosis: an 18-month, open-label, rater-blinded, randomised, multicentre study (the GOLDEN study)

Centre, University Hospital, Catania, Italy, (2) Girolama Alessandra Marfia and Diego Centonze, Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy, (3) Vincenzo Brescia Morra, MS

Disability and Fatigue Can Be Objectively Measured in Multiple Sclerosis

Background The available clinical outcome measures of disability in multiple sclerosis are not adequately responsive or sensitive. Objective To investigate the feasibility of inertial sensor-based gait analysis in multiple sclerosis. Methods A cross-sectional study of 80 multiple sclerosis patients and 50 healthy controls was performed. Lower-limb kinematics was evaluated by...

Interaction between interleukin-1β and type-1 cannabinoid receptor is involved in anxiety-like behavior in experimental autoimmune encephalomyelitis

Background Mood disorders, including anxiety and depression, are frequently diagnosed in multiple sclerosis (MS) patients, even independently of the disabling symptoms associated with the disease. Anatomical, biochemical, and pharmacological evidence indicates that type-1 cannabinoid receptor (CB1R) is implicated in the control of emotional behavior and is modulated during...

Siponimod (BAF312) prevents synaptic neurodegeneration in experimental multiple sclerosis

Background Data from multiple sclerosis (MS) and the MS rodent model, experimental autoimmune encephalomyelitis (EAE), highlighted an inflammation-dependent synaptopathy at the basis of the neurodegenerative damage causing irreversible disability in these disorders. This synaptopathy is characterized by an imbalance between glutamatergic and GABAergic transmission and has been...

Cerebrospinal fluid lactate is associated with multiple sclerosis disease progression

clinical trials for Novartis, Merck Serono, Teva, Bayer Schering, Sanofi-aventis, Biogen Idec, and Roche. Dr. Fabio Buttari received funding for traveling from Teva. Dr. Diego Centonze acted as an Advisory

Less Frequent and Less Severe Flu-Like Syndrome in Interferon Beta-1a Treated Multiple Sclerosis Patients with at Least One Allele Bearing the G>C Polymorphism at Position -174 of the IL-6 Promoter Gene

One of the most common adverse event of interferon beta (IFNβ) therapy for multiple sclerosis is flu-like syndrome (FLS), which has been reportedly related to increased levels of cytokines such as interleukin 6 (IL-6) and tumor necrosis factor-alpha (TNF-α). Average cytokine levels can be affected by single nucleotide polymorphism in the gene promoter regions. To investigate...

Prevalence of multiple sclerosis in the Lazio region, Italy: use of an algorithm based on health information systems

Fino, Gaspare Guglielmi, Massimiliano Mirabella, Viviana Nociti (Fondazione Policlinico Universitario A. Gemelli, Catholic University, Roma). Fabio Buttari, Diego Centonze, Maria Teresa Di Natolo (Tor

Sativex in resistant multiple sclerosis spasticity: Discontinuation study in a large population of Italian patients (SA.FE. study)

, Roberto Bruno Bossio, Vincenzo Brescia Morra, Gianfranco Costantino, Paola Cavalla, Diego Centonze, Giancarlo Comi, Salvatore Cottone, Maura Chiara Danni, Ada Francia, Alberto Gajofatto, Claudio Gasperini ... , Gianfranco Costantino, Paola Cavalla, Diego Centonze, Giancarlo Comi, Salvatore Cottone, Maura Chiara Danni, Ada Francia, Alberto Gajofatto, Claudio Gasperini, Mauro Zaffaroni, Loredana Petrucci, Elisabetta

Differences in Spontaneously Avoiding or Approaching Mice Reflect Differences in CB1-Mediated Signaling of Dorsal Striatal Transmission

Approach or avoidance behaviors are accompanied by perceptual vigilance for, affective reactivity to and behavioral predisposition towards rewarding or punitive stimuli, respectively. We detected three subpopulations of C57BL/6J mice that responded with avoiding, balancing or approaching behaviors not induced by any experimental manipulation but spontaneously displayed in an...

Interleukin-1β causes excitotoxic neurodegeneration and multiple sclerosis disease progression by activating the apoptotic protein p53

Background Understanding how inflammation causes neuronal damage is of paramount importance in multiple sclerosis (MS) and in other neurodegenerative diseases. Here we addressed the role of the apoptotic cascade in the synaptic abnormalities and neuronal loss caused by the proinflammatory cytokines interleukin-1β (IL-1β) and tumor necrosis factor (TNF-α) in brain tissues, and...

Cerebrospinal fluid detection of interleukin-1β in phase of remission predicts disease progression in multiple sclerosis

Background Absence of clinical and radiological activity in relapsing–remitting multiple sclerosis (RRMS) is perceived as disease remission. We explored the role of persisting inflammation during remission in disease evolution. Methods Cerebrospinal fluid (CSF) levels of interleukin 1β (IL-1β), a major proinflammatory cytokine, were measured in 170 RRMS patients at the time of...

Future MS care: a consensus statement of the MS in the 21st Century Steering Group

, Moscow, Russia); Diego Centonze (Neurologist, Rome, Italy); Alasdair Coles (Neurologist, Cambridge, UK); Irina Elovaara (Neurologist, Tampere, Finland); Eva Havrdova (Neurologist, Prague, Czech Republic ... of interest to declare in regards to Merck Serono: Peter Rieckmann has received honoraria and speakers fees; Diego Centonze has a financial arrangement; Alasdair Coles has received honoraria; Irina

Association between a Genetic Variant of Type-1 Cannabinoid Receptor and Inflammatory Neurodegeneration in Multiple Sclerosis

Centonze 0 Celia Oreja-Guevara, University Hospital La Paz, Spain 0 1 Clinica Neurologica, Dipartimento di Medicina dei Sistemi, Universita` Tor Vergata , Rome , Italy , 2 Centro Europeo per la Ricerca sul

Inflammation Subverts Hippocampal Synaptic Plasticity in Experimental Multiple Sclerosis

Abnormal use-dependent synaptic plasticity is universally accepted as the main physiological correlate of memory deficits in neurodegenerative disorders. It is unclear whether synaptic plasticity deficits take place during neuroinflammatory diseases, such as multiple sclerosis (MS) and its mouse model, experimental autoimmune encephalomyelitis (EAE). In EAE mice, we found...

Increased CD8+ T Cell Response to Epstein-Barr Virus Lytic Antigens in the Active Phase of Multiple Sclerosis

consultant for Merck Serono and Biogen Idec, and has received speaker honoraria from Teva, Merck Serono, Bayer Shering and Biogec Idec. Diego Centonze, MD, is an Advisory Board member of Merck-Serono, Teva and

Patient adherence to and tolerability of self-administered interferon β-1a using an electronic autoinjection device: a multicentre, open-label, phase IV study

Ciro Florio Vincenzo Brescia-Morra Salvatore Cottone Paolo Bellantonio Marinella Clerico Diego Centonze Antonio Uccelli Maria di Ioia 0 Giovanna De Luca 0 Andrea Marcellusi Andrea Paolillo for the BRIDGE

Opposite Roles of NMDA Receptors in Relapsing and Primary Progressive Multiple Sclerosis

Synaptic transmission and plasticity mediated by NMDA receptors (NMDARs) could modulate the severity of multiple sclerosis (MS). Here the role of NMDARs in MS was first explored in 691 subjects carrying specific allelic variants of the NR1 subunit gene or of the NR2B subunit gene of this glutamate receptor. The analysis was replicated for significant SNPs in an independent sample...