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1. A multicentric pharmacovigilance study: collection and analysis of adverse drug reactions in relapsing-remitting multiple sclerosis patients

Author

Gugliandolo A, Longo F, Marrosu MG, Mancardi GL, Gandoglia I, Melis M, Lo Giudice F, Bramanti P, and Mazzon E

Subjects
pharmacovigilance, relapsing-remitting multiple sclerosis, adverse drug reaction, disease modifying therapy, safety, Therapeutics. Pharmacology, RM1-950
Abstract

Agnese Gugliandolo,1 Federica Longo,1 Maria Giovanna Marrosu,2 Giovanni Luigi Mancardi,3,4 Ilaria Gandoglia,3 Maurizio Melis,5 Fabrizio Lo Giudice,1 Placido Bramanti,1 Emanuela Mazzon1 1Department of Experimental Neurology, IRCCS Centro Neurolesi “Bonino Pulejo”, Messina, Italy; 2Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy; 3Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; 4IRCCS Azienda Ospedaliera Universitaria San Martino-IST, Genoa, Italy; 5SC Neurologia e Stroke Unit, Azienda Ospedaliera G Brotzu, Cagliari, Italy Purpose: We performed a pharmacovigilance study of 10 drugs used in patients with relapsing-remitting multiple sclerosis (RR-MS). Our aim was to provide an overview of the safety of these drugs by the evaluation of reported expected and unexpected adverse reactions. Patients and methods: We collected and analyzed adverse drug reactions from RR-MS patients belonging to four hospitals in three Italian regions, for a period of 24 months. Results: We received a total of 411 adverse reactions, of which 84.18% were expected and only 15.82% were unexpected. We found no correlation between the number of reported adverse reactions and the route of administration (injectable/intravenous drugs N=224, oral drugs N=187). However, oral agents have caused a greater number of unexpected moderate-to-severe adverse reactions while, in injectable and infusion therapies, they have been evaluated as mild–moderate adverse reactions. Conclusion: Our results underscore the importance of monitoring the safety profile of multiple sclerosis therapies, with particular attention to oral agents that have been introduced later in the clinical practice. Keywords: pharmacovigilance, relapsing-remitting multiple sclerosis, adverse drug reaction, disease-modifying therapy, safety

Published
2018

2. No evidence of disease activity (NEDA-3) and disability improvement after alemtuzumab treatment for multiple sclerosis: a 36-month real-world study

Author

Prosperini, L, Annovazzi, P, Boffa, L, Buscarinu, Mc, Gallo, A, Matta, M, Moiola, L, Musu, L, Perini, P, Avolio, C, Barcella, V, Bianco, A, Farina, D, Ferraro, E, Pontecorvo, S, Granella, F, Grimaldi, Lme, Laroni, A, Lus, G, Patti, F, Pucci, E, Pasca, M, Sarchielli, P, Ghezzi, A, Zaffaroni, M, Baroncini, D, Buttari, F, Centonze, D, Fornasiero, A, Salvetti, M, Docimo, R, Signoriello, E, Tedeschi, G, Bertolotto, A, Capobianco, M, Comi, G, Cocco, E, Gallo, P, Puthenparampil, M, Grasso, R, Di Francescantonio, V, Rottoli, Mr, Mirabella, M, Lugaresi, A, De Luca, G, Di Ioia, M, Di Tommaso, V, Mancinelli, L, Di Battista, G, Francia, A, Ruggieri, S, Pozzilli, C, Curti, E, Tsantes, E, Palmeri, B, Lapucci, C, Mancardi, Gl, Uccelli, A, Chisari, C, D'Amico, E, Cartechini, E, Repice, Am, Magnani, E, Massaccesi, L, Calabresi, P, Di Filippo, M, Di Gregorio, M, Italian Alemtuzumab Study, Group., Prosperini, Luca, Annovazzi, Pietro, Boffa, Laura, Buscarinu, Maria Chiara, Gallo, Antonio, Matta, Manuela, Moiola, Lucia, Musu, Luigina, Perini, Paola, Avolio, Carlo, Barcella, Valeria, Bianco, Assunta, Farina, Deborah, Ferraro, Elisabetta, Pontecorvo, Simona, Granella, Franco, Grimaldi, Luigi M E, Laroni, Alice, Lus, Giacomo, Patti, Francesco, Pucci, Eugenio, Pasca, Matteo, and Sarchielli, Paola

Subjects
Adult, Male, medicine.medical_specialty, Neurology, Outcome measurement, Relapsing-Remitting, Follow-Up Studie, Multiple sclerosis, 03 medical and health sciences, Immunologic Factor, 0302 clinical medicine, Multiple Sclerosis, Relapsing-Remitting, Alemtuzumab, Multiple sclerosis, Outcome measurement, Retrospective Studie, Alemtuzumab, Internal medicine, Medicine, Humans, Immunologic Factors, Multiple sclerosi, 030212 general & internal medicine, Female, Follow-Up Studies, Magnetic Resonance Imaging, Retrospective Studies, Treatment Outcome, Neurology (clinical), Expanded Disability Status Scale, medicine.diagnostic_test, business.industry, Retrospective cohort study, Magnetic resonance imaging, Odds ratio, medicine.disease, alemtuzumab, multiple sclerosis, outcome measurement, neurology, Clinical trial, Settore MED/26 - NEUROLOGIA, business, 030217 neurology & neurosurgery, Human, medicine.drug
Abstract

In this retrospective, multicenter, real-world study we collected clinical and magnetic resonance imaging (MRI) data of all patients (n = 40) with relapsing-remitting multiple sclerosis (RRMS) treated with alemtuzumab according to a "free-of-charge" protocol available before the drug marketing approval in Italy. Almost all (39/40) started alemtuzumab after discontinuing multiple disease-modifying treatments (DMTs) because of either lack of response or safety concerns. We considered the proportion of alemtuzumab-treated patients who had no evidence of disease activity (NEDA-3) and disability improvement over a 36-month follow-up period. NEDA-3 was defined as absence of relapses, disability worsening, and MRI activity. Disability improvement was defined as a sustained reduction of ≥ 1-point in Expanded Disability Status Scale (EDSS) score. At follow-up, 18 (45%) patients achieved NEDA-3, 30 (75%) were relapse-free, 33 (82.5%) were EDSS worsening-free, and 25 (62.5%) were MRI activity-free. Eleven (27.5%) patients had a sustained disability improvement. We found no predictor for the NEDA-3 status, while the interaction of higher EDSS score by higher number of pre-alemtuzumab relapses was associated with a greater chance of disability improvement (odds ratio 1.10, p = 0.049). Our study provides real-world evidence that alemtuzumab can promote clinical and MRI disease remission, as well as disability improvement, in a significant proportion of patients with RRMS despite prior multiple DMT failures. The drug safety profile was consistent with data available from clinical trials.

Published
2018

5. Autologous haematopoietic stem cell transplantation with an intermediate intensity conditioning regimen in multiple sclerosis: the Italian multi-centre experience

Author

Mancardi, Gl, Sormani, Mp, Di Gioia, M, Vuolo, L, Gualandi, F, Amato, Mp, Capello, E, Currò, D, Uccelli, A, Bertolotto, A, Gasperini, C, Lugaresi, A, Merelli, E, Meucci, G, Motti, L, Tola, Mr, Scarpini, E, Repice, Am, Massacesi, L, Saccardi, R, Donnini, I, Bosi, A, Guidi, S, Bagigalupo, A, Bonzano, L, Bruzzi, P, Roccatagliata, L, Antenucci, R, Granella, F, Martino, G, Rottoli, M, Solaro, C, Salvi, F, Ursino, E, Barilaro, A, Capobianco, M., Mancardi G, Sormani M, Di Gioia M, Vuolo L, Gualandi F, Amato M, Capello E, Currò D, Uccelli A, Bertolotto A, Gasperini C, Lugaresi A, Merelli E, Meucci G, Motti L, Tola M, Scarpini E, Repice A, Massacesi L, and Saccardi R

Subjects
Adult, medicine.medical_specialty, Time Factors, Transplantation Conditioning, Adolescent, medicine.medical_treatment, multiple sclerosis, treatment, prognosis, autologous stem cell transplantation, Kaplan-Meier Estimate, Severity of Illness Index, Transplantation, Autologous, Disease-Free Survival, Disability Evaluation, Young Adult, Multiple Sclerosis, Relapsing-Remitting, Autologous stem-cell transplantation, Refractory, Predictive Value of Tests, medicine, Humans, Registries, Multi centre, Chi-Square Distribution, business.industry, Multiple sclerosis, Hematopoietic Stem Cell Transplantation, Immunosuppression, Middle Aged, Multiple Sclerosis, Chronic Progressive, medicine.disease, Magnetic Resonance Imaging, Surgery, Transplantation, Haematopoiesis, Treatment Outcome, Italy, Neurology, Disease Progression, Neurology (clinical), Stem cell, business
Abstract

Background: Over recent years numerous patients with severe forms of multiple sclerosis (MS) refractory to conventional therapies have been treated with intense immunosuppression followed by autologous haematopoietic stem cell transplantation (AHSCT). The clinical outcome and the toxicity of AHSCT can be diverse, depending on the various types of conditioning protocols and on the disease phase. Objectives: To report the Italian experience on all the consecutive patients with MS treated with AHSCT with an intermediate intensity conditioning regimen, named BEAM/ATG, in the period from 1996 to 2008. Methods: Clinical and magnetic resonance imaging outcomes of 74 patients were collected after a median follow-up period of 48.3 (range = 0.8–126) months. Results: Two patients (2.7%) died from transplant-related causes. After 5 years, 66% of patients remained stable or improved. Among patients with a follow-up longer than 1 year, eight out of 25 subjects with a relapsing–remitting course (31%) had a 6–12 months confirmed Expanded Disability Status Scale improvement > 1 point after AHSCT as compared with one out of 36 (3%) patients with a secondary progressive disease course ( p = 0.009). Among the 18 cases with a follow-up longer than 7 years, eight (44%) remained stable or had a sustained improvement while 10 (56%), after an initial period of stabilization or improvement with median duration of 3.5 years, showed a slow disability progression. Conclusions: This study shows that AHSCT with a BEAM/ATG conditioning regimen has a sustained effect in suppressing disease progression in aggressive MS cases unresponsive to conventional therapies. It can also cause a sustained clinical improvement, especially if treated subjects are still in the relapsing–remitting phase of the disease.

Published
2011

6. A Placebo-Controlled Trial of Oral Cladribine for Relapsing Multiple Sclerosis

Author

Giovannoni, G, Comi, G, Cook, S, Rammohan, K, Rieckmann, P, Soelberg Sørensen, P, Vermersch, P, Sandberg Wollheim, M, Cuzick, J, Juliusson, G, Reingold, S, King, J, Pollard, J, Sedal, L, Aichner, F, Eggers, C, Dive, D, Medaer, R, Ferreira, M, Manchev, I, Milanov, I, Haralanov, L, Deleva, N, Petrova, N, Bozhinov, P, Zahariev, Z, Stamenov, B, Shotekov, P, Petrov, I, Moskov, R, Emond, F, Freedman, M, Grand'Maison, F, Jacques, F, Vorobeychik, G, Demarin, V, Kovacicek, M, Lusic, I, Perhat Bucevic, T, Havrdova, E, Talab, R, Kanovsky, P, Petersen, T, Gross Paju, K, Kalbe, I, Toomsoo, T, Elovaara, I, Eralinna, Jp, Reunanen, M, Clavelou, P, Damier, P, Debouverie, M, Edan, G, Gout, O, Labauge, P, Laplaud, D, Wiertlewski, S, Heidenreich, F, Mäurer, M, Kieseier, B, Limmroth, V, Oschmann, P, Schimrigk, S, Steinbrecher, A, Zettl, U, Ziemann, U, Karageorgiou, K, Kyritsis, A, Papadimitriou, A, Amato, Mp, Bernardi, G, Morra, Vb, Galgani, S, Gallo, Paolo, Patti, F, Marrosu, M, Pozzilli, C, Trojano, M, Mancardi, Gl, Gebeily, S, Koussa, S, Wehbe, M, Yamout, B, Vaitkus, A, Metra, M, Messouak, O, Mossaddaq, R, Slassi, I, Yahyaoui, M, Hupperts, Rm, Czlonkowska, A, Kozubski, W, Nyka, W, Selmaj, K, Szczudlik, A, Figueiredo, J, Pedrosa, R, Alifirova, V, Balyazin, V, Barbarash, O, Belova, A, Boyko, A, Gusev, E, Elchaninov, A, Jacoupov, E, Julev, N, Kotov, S, Kudryavtsev, A, Laskov, V, Lesnyak, O, Odinak, M, Pasechnik, E, Poverennonva, I, Skoromets, A, Spirin, N, Stolyarov, I, Vorobieva, O, Voskresenskaya, O, Zaslavskiy, L, Zonova, E, Bohlega, S, El Jumah, M, Drulovic, J, Nadj, C, Goebels, N, Schluep, M, Ayed Frih, M, Hentati, F, Mhiri, C, Mrabet, A, Mrissa, R, Idiman, E, Karabudak, R, Turan, Of, Ahmed, F, Constantinescu, C, Hawkins, C, Palace, J, Sharrack, B, Loganovsky, K, Moskovko, S, Nehrych, T, Voloshyna, Np, Carlini, W, English, J, Garmany, G, Glyman, S, Huddlestone, J, Hurwitz, B, Kresa Reahl, K, Mikol, D, Pardo, G, Rao, H, Reif, M, Thrower, B, Royal, W, Webb, R, Wynn, D, Naga, C, Allen, N, Lin, K, Stefoski, D, Balabanov, R., Klinische Neurowetenschappen, RS: MHeNs School for Mental Health and Neuroscience, G., Giovannoni, G., Comi, S., Cook, K., Rammohan, P., Rieckmann, P. S., Sorensen, P., Vermersch, P., Chang, A., Hamlett, B., Musch, S. J., Greenberg, Altri, and BRESCIA MORRA, Vincenzo

Subjects
Male, Medizin, Placebo-controlled study, Administration, Oral, Relapsing-Remitting, drug therapy/pathology, Gastroenterology, Disability Evaluation, Cladribine, Hazard ratio, Brain, General Medicine, Middle Aged, Administration, Oral, Adolescent, Adult, Aged, Analysis of Variance, Brain, pathology, Cladribine, adverse effects/therapeutic use, Disability Evaluation, Disease Progression, Double-Blind Method, Female, Herpes Zoster, etiology, Humans, Immunosuppressive Agents, adverse effects/therapeutic use, Intention to Treat Analysis, Lymphopenia, chemically induced, Magnetic Resonance Imaging, Male, Middle Aged, Multiple Sclerosis, drug therapy/pathology, Young Adult, Magnetic Resonance Imaging, Intention to Treat Analysis, adverse effects/therapeutic use, Disease Progression, chemically induced, Female, Immunosuppressive Agents, medicine.drug, Oral, Adult, medicine.medical_specialty, Multiple Sclerosis, Adolescent, etiology, cladribine, immunomodulation, multiple sclerosis, trial, Lower risk, Placebo, DIAGNOSIS, Herpes Zoster, Young Adult, Multiple Sclerosis, Relapsing-Remitting, Double-Blind Method, Lymphopenia, Internal medicine, medicine, Humans, Adverse effect, Aged, Analysis of Variance, business.industry, MS, medicine.disease, Confidence interval, Surgery, CELLS, pathology, Lymphocytopenia, business
Abstract

Cladribine provides immunomodulation through selective targeting of lymphocyte subtypes. We report the results of a 96-week phase 3 trial of a short-course oral tablet therapy in patients with relapsing–remitting multiple sclerosis. We randomly assigned 1326 patients in an approximate 1:1:1 ratio to receive one of two cumulative doses of cladribine tablets (either 3.5 mg or 5.25 mg per kilogram of body weight) or matching placebo, given in two or four short courses for the first 48 weeks, then in two short courses starting at week 48 and week 52 (for a total of 8 to 20 days per year). The primary end point was the rate of relapse at 96 weeks. Among patients who received cladribine tablets (either 3.5 mg or 5.25 mg per kilogram), there was a significantly lower annualized rate of relapse than in the placebo group (0.14 and 0.15, respectively, vs. 0.33 ; P

Published
2010

8. Intraspinal stem cell transplantation for amyotrophic lateral sclerosis: Ready for efficacy clinical trials?

Author

Atassi, N, Beghi, E, Blanquer, M, Boulis, N, Cantello, R, Caponnetto, C, Chiò, A, Dunnett, S, Feldman, E, Vescovi, A, Mazzini, L, Bendotti, C, Bersano, E, Brajkovic, S, Car, P, De Marchi, F, Fantozzi, R, Follenzi, A, Gelati, M, Giorgi, C, Grilli, M, Guenzi, P, La Bella, V, Mancardi, G, Panzarasa, G, Poloni, M, Profico, D, Silani, V, Sorarù, G, Spataro, R, Stecco, A, Vercelli, A, Boulis, NM, Dunnett, SB, Feldman, EL, Mancardi, GL, Atassi, N, Beghi, E, Blanquer, M, Boulis, N, Cantello, R, Caponnetto, C, Chiò, A, Dunnett, S, Feldman, E, Vescovi, A, Mazzini, L, Bendotti, C, Bersano, E, Brajkovic, S, Car, P, De Marchi, F, Fantozzi, R, Follenzi, A, Gelati, M, Giorgi, C, Grilli, M, Guenzi, P, La Bella, V, Mancardi, G, Panzarasa, G, Poloni, M, Profico, D, Silani, V, Sorarù, G, Spataro, R, Stecco, A, Vercelli, A, Boulis, NM, Dunnett, SB, Feldman, EL, and Mancardi, GL

Abstract

Intraspinal stem cell (SC) transplantation represents a new therapeutic approach for amyotrophic lateral sclerosis (ALS) clinical trials. There are considerable difficulties in designing future efficacy trials, some related to the field of ALS and some that are specific to SCs or the mode of delivery. In October 2015, the most controversial points on SC transplantation were addressed during an international workshop intended to bring together international SC and ALS researchers in a public discussion on a topic for which expertise is limited. During the meeting, a discussion was started on the basic structure of the ideal clinical trial testing the efficacy and safety of SC transplantation. The current document includes a number of consensus points reflecting the design of phase II/III clinical trials.

Published
2016

9. Malattie del Sistema Nervoso

Author

FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, CAVALETTI, GUIDO ANGELO, SGANZERLA, ERIK PIETRO, Cortelli, P, Federico, A, Mancardi, GL, Marciani, MG, Meola, G, Nichelli, P, Toscano, A., Ferrarese, C, Appollonio, I, Cavaletti, G, Mancardi, G, Marciani, M, Sganzerla, E, Toscano, A, FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, CAVALETTI, GUIDO ANGELO, SGANZERLA, ERIK PIETRO, Cortelli, P, Federico, A, Mancardi, GL, Marciani, MG, Meola, G, Nichelli, P, Toscano, A., Ferrarese, C, Appollonio, I, Cavaletti, G, Mancardi, G, Marciani, M, Sganzerla, E, and Toscano, A

Abstract

La nuova edizione di Core Curriculum Malattie del sistema nervoso nasce sia dall'esigenza di tenere aggiornata una disciplina dinamica, che negli ultimi anni è andata incontro a una profonda evoluzione, legata ai progressi delle neuroscienze di base, delle metodiche di imaging e all'utilizzo di nuovi farmaci e di nuove procedure interventistiche e sia dall'apprezzamento che docenti e studenti hanno avuto per la prima edizione del testo. I capitoli sono stati revisionati alla luce delle recenti acquisizioni mediche: sono state descritte le nuove potenzialità diagnostiche della TAC perfusionale, della RMN, riportate le nuove classificazioni delle cefalee, delle sindromi epilettiche e della sclerosi multipla, con ampia descrizione dei farmaci disponibili, è stato dedicato un capitolo alle urgenze neurologiche e altro ancora, resta confermato il taglio pratico e didattico dell'opera che ben orienta gli studenti di Medicina e Chirurgia nello studio di questa materia.

Published
2016

10. Acute myeloid leukemia in Italian patients with multiple sclerosis treated with mitoxantrone

Author

Martinelli V, Cocco E, Capra R, Salemi G, Gallo P, Capobianco M, Pesci I, Ghezzi A, Pozzilli C, Lugaresi A, Bellantonio P, Amato MP, Grimaldi LM, Trojano M, Mancardi GL, Bergamaschi R, Gasperini C, Rodegher M, Straffi L, Ponzio M, Comi G, Italian Mitoxantrone G.r.o.u.p. COLLABORATORS: Radaelli M, Esposito F, Moiola L, Colombo B, Rossi P, Marrosu MG, Frau J, Lorefice L, Coghe G, Savettieri G, Ragonese P, Cusimano V, Perini P, Rinaldi F, Vidali A, Bertolotto A, Malucchi S, Di Sapio A, Montanari E, Guareschi A, Rizzo A, Zaffaroni M, Baldini S, De Rossi N, Cordioli C, Rasia S, Salvetti M, Buttinelli C, Ausili Cefaro L, De Luca G, Tommaso D, Farina D, Fantozzi R, Ruggieri S, Hakiki B, Zipoli V, Portaccio E, Bartolozzi ML, Scandellari C, Stecchi S, Marchello LP, Palmeri B, Vitello G, Iaffaldano P, Lucchese G, Dattola V, Buccafusca M, Sola P, Simone AM, Barreca F, Patti F, Laisa P, Cavalla P, Masera S, Tavazzi E, Galgani S, Sacco R, Provinciali L, Maura D, LUS, Giacomo, Alfieri G, Ticca A, Piras ML, Maimone D, Bianca M, Iudice A, Giro ME, Galeotti M, Florio C, Spitalieri P, La Mantia L, Motti L, Rottoli MR, Granella F, Solaro C, Scarpini E, Servillo G, Cavalletti G., TEDESCHI, Gioacchino, Martinelli, V, Cocco, E, Capra, R, Salemi, G, Gallo, P, Capobianco, M, Pesci, I, Ghezzi, A, Pozzilli, C, Lugaresi, A, Bellantonio, P, Amato, Mp, Grimaldi, Lm, Trojano, M, Mancardi, Gl, Bergamaschi, R, Gasperini, C, Rodegher, M, Straffi, L, Ponzio, M, Comi, G, COLLABORATORS: Radaelli M, Italian Mitoxantrone G. r. o. u. p., Esposito, F, Moiola, L, Colombo, B, Rossi, P, Marrosu, Mg, Frau, J, Lorefice, L, Coghe, G, Savettieri, G, Ragonese, P, Cusimano, V, Perini, P, Rinaldi, F, Vidali, A, Bertolotto, A, Malucchi, S, Di Sapio, A, Montanari, E, Guareschi, A, Rizzo, A, Zaffaroni, M, Baldini, S, De Rossi, N, Cordioli, C, Rasia, S, Salvetti, M, Buttinelli, C, Ausili Cefaro, L, De Luca, G, Tommaso, D, Farina, D, Fantozzi, R, Ruggieri, S, Hakiki, B, Zipoli, V, Portaccio, E, Bartolozzi, Ml, Scandellari, C, Stecchi, S, Marchello, Lp, Palmeri, B, Vitello, G, Iaffaldano, P, Lucchese, G, Dattola, V, Buccafusca, M, Sola, P, Simone, Am, Barreca, F, Patti, F, Laisa, P, Cavalla, P, Masera, S, Tavazzi, E, Galgani, S, Tedeschi, Gioacchino, Sacco, R, Provinciali, L, Maura, D, Lus, Giacomo, Alfieri, G, Ticca, A, Piras, Ml, Maimone, D, Bianca, M, Iudice, A, Giro, Me, Galeotti, M, Florio, C, Spitalieri, P, La Mantia, L, Motti, L, Rottoli, Mr, Granella, F, Solaro, C, Scarpini, E, Servillo, G, and Cavalletti, G.

Published
2011

11. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Author

Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., NOLANO, MARIA, SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Santoro, Lucio, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., Nolano, Maria, Reilly, M, Fabrizi, G, Hughes, R, for the CMT, T, CMT TRAUK, G, and CMT TRAUK, g. r. o. u. p. s.

Subjects
Male, patients, Antioxidants, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 1A, 0303 health sciences, CMT1A, ascorbic acid, neuropathy, trial, Middle Aged, Charcot-Marie-Tooth Disease Type 1A, drug therapy, 3. Good health, Settore MED/26 - NEUROLOGIA, Treatment Outcome, Tolerability, Female, Antioxidant, Human, Adult, medicine.medical_specialty, SF-36, Adolescent, Clinical Neurology, double-blind controlled trial, Placebo, Double blind, 03 medical and health sciences, Acido ascorbico, Double-Blind Method, Internal medicine, medicine, Fast track — Articles, Humans, Adverse effect, 030304 developmental biology, Aged, business.industry, Ascorbic acid, Adolescent, Adult, Aged, Antioxidants, therapeutic use, Ascorbic Acid, therapeutic use, Charcot-Marie-Tooth Disease, drug therapy, Double-Blind Method, Female, Humans, Male, Middle Aged, Treatment Outcome, Surgery, therapeutic use, Charcot Marie Tooth, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Summary Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 ( PMP22 ), a model of Charcot–Marie–Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A. Methods Adult patients (aged 18–70 years) with symptomatic CMT1A were enrolled from nine centres in Italy and the UK, and were randomly assigned (1:1 ratio) to receive 1·5 g/day oral ascorbic acid or matching placebo for 24 months. The randomisation sequence was computer generated by block randomisation, stratified by centre and disease severity, and patients were allocated to treatment by telephone. The primary outcome was change in the CMT neuropathy score (CMTNS) at 24 months. Secondary outcomes were timed 10 m walk test, nine-hole peg test, overall neuropathy limitations scale, distal maximal voluntary isometric contraction, visual analogue scales for pain and fatigue, 36-item short-form questionnaire, and electrophysiological measurements. Patients, treating physicians, and physicians assessing outcome measures were masked to treatment allocation. Analysis of the primary outcome was done on all randomised patients who received at least one dose of study drug. This study is registered, numbers ISRCTN61074476 (CMT-TRAUK) and EudraCT 2006-000032-27 (CMT-TRIAAL). Findings We enrolled and randomly assigned 277 patients, of whom six (four assigned to receive ascorbic acid) withdrew consent before receiving treatment; 138 receiving ascorbic acid and 133 receiving placebo were eligible for analysis. Treatment was well tolerated: 241 of 271 patients (89% in each group) completed the study; 20 patients (nine receiving ascorbic acid) dropped out because of adverse events. Mean CMTNS at baseline with missing data imputed was 14·7 (SD 4·8) in the ascorbic acid group and 13·9 (4·2) in the placebo group. Mean worsening of CMTNS was 0·2 (SD 2·8, 95% CI −0·3 to 0·7) in the ascorbic acid group and 0·2 (2·7, −0·2 to 0·7) in the placebo group (mean difference 0·0, 95% CI −0·6 to 0·7; p=0·93). We recorded no differences between the groups for the secondary outcomes at 24 months. 21 serious adverse events occurred in 20 patients, eight in the ascorbic acid group and 13 in the placebo group. Interpretation Ascorbic acid supplementation had no significant effect on neuropathy compared with placebo after 2 years, suggesting that no evidence is available to support treatment with ascorbic acid in adults with CMT1A. Funding Telethon-UILDM and AIFA (Italian Medicines Agency) for CMT-TRI AA L, and Muscular Dystrophy Campaign for CMT-TRAUK.

Published
2011

12. Pregnancy and fetal outcomes after interferonbeta exposure in multiple sclerosis

Author

AMATO MP, PORTACCCIO E. GHEZZI A, HAKIKI B, ZIPOLI V, MARTINELLI V, MOIOLA L, PATTI F, LA MANTIA L, MANCARDI GL, SOLARO C, TOLA MR, POZZILLI C, DE GIGLIO L, TOTANO R, LUGARSIA, DI TOMMASO V, PAOLOCELLI D, MARROSU MG, PELLEGRINI F, TROJANO M., COMI , GIANCARLO, Amato, Mp, PORTACCCIO E., GHEZZI A, Hakiki, B, Zipoli, V, Martinelli, V, Moiola, L, Patti, F, LA MANTIA, L, Mancardi, Gl, Solaro, C, Tola, Mr, Pozzilli, C, DE GIGLIO, L, Totano, R, Lugarsia, DI TOMMASO, V, Paolocelli, D, Marrosu, Mg, Comi, Giancarlo, Pellegrini, F, and Trojano, M.

Published
2010

13. Experience of an information aid for newly diagnosed multiple sclerosis patients: a qualitative study on the SIMS-Trial

Author

Borreani, C, Giordano, A, Falautano, M, Lugaresi, A, Martinelli, V, Granella, F, Tortorella, C, Plasmati, I, Radaelli, M, Dalla Bella, E, Bianchi, E, Acquarone, N, Miccinesi, G, Solari, A, D' Alessandro, R, Pucci, E, Uccelli, Mm, Trojano, M, Heesen, C, Mancardi, Gl, Milanese, C, Calabrese, D, Ferrari, G, Mattarozzi, K, Confalonieri, P, Antozzi, C, Maggi, L, Mantegazza, R, Colombo, B, Esposito, F, Moiola, L, Rodegher, M, Immovilli, P, Farina, D, De Luca, G, Di Tommaso, V, Di Ioia, M, Travaglini, D, Pietrolongo, E, and Zimatore, G.

Subjects
Adult, Male, Clinical Trials as Topic, Multiple Sclerosis, Time Factors, Patient Education as Topic, Patients, Physicians, Humans, Female, Middle Aged, Original Research Papers, Qualitative Research
Abstract

The SIMS-Trial (ISRCTN81072971) proved the effectiveness, in terms of patient's knowledge and care satisfaction, of an add-on information aid (personal interview with a physician using a navigable CD and take-home booklet) in 120 newly diagnosed patients with multiple sclerosis (MS) from five Italian centres.To scrutinize the experience of SIMS-Trial participants in order to gain better understanding of the effectiveness of the information aid and its components.We performed (i) nine individual semi-structured interviews with a purposeful sample of SIMS-Trial patients who received the information aid, (ii) focus group meeting (FGM) with the physicians who conducted the personal interview, and (iii) FGM with patients' caring neurologists.Patients' experience with the information aid was positive as it enhanced their understanding of their disease, being viewed as a guided tour of their medical condition. The physicians who conducted the personal interviews were also positive in their overall evaluation but noted an initial difficulty in using the CD. The caring neurologists had limited direct experience of the aid, and their views were confined to utility of the information aid in general. All participants considered the combination of personal interview, CD navigation and take-home booklet essential, but urged a more flexible scheduling of the personal interview. It also emerged that some content required revision and that the aid was unsuitable for patients with primary progressive MS.The results of the study further support the value of the aid and also provide important indications for improving it and refining indications for use.

Published
2014

14. The Italian Natalizumab Registry: A 1-Year Follow-Up

Author

Piccinni C, Periotto L, Addis A, Amato MP, Mancardi GL, Poluzzi E, Montanaro N, SAVETTIERI, Giovanni, Piccinni C, Periotto L, Addis A, Amato MP, Mancardi GL, Poluzzi E, Montanaro N, and Savettieri, G.

Subjects
Natalizumab, Multiple Sclerosis, Settore MED/26 - Neurologia
Published
2008

15. Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, Lauria, G., SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Santoro, Lucio, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, and Lauria, G.

Published
2008

16. A PHASE I-II MULTICENTRE STUDY ON G-CSF IN AMYOTROPHIC LATERAL SCLEROSIS (STEMALS)

Author

CHIÒ A, MORA G, SICILIANO G, SABATELLI M, SILANI V, MOGLIA C, MANCARDI GL, TONALI P, CALVO A, MUTANI R, CORBO M, SCIMÉ R, DONOFRIO G, PETRINI M, MELAZZINI M, GUALANDI F, TARELLA C., CAPONNETTO, Chiara, LA BELLA, Vincenzo, CHIÒ A, MORA G, CAPONNETTO C, SICILIANO G, SABATELLI M, LA BELLA V, SILANI V, MOGLIA C, MANCARDI GL, TONALI P, CALVO A, MUTANI R, CORBO M, SCIMÉ R, DONOFRIO G, PETRINI M, MELAZZINI M, GUALANDI F, and TARELLA C

Published
2008

17. A phase I-II multicentre study on G-CSF in Amyotrophic Lateral Sclerosis

Author

CHIÒ A, MORA G, SICILIANO G, SABATELLI M, SILANI V, MOGLIA C, TONALI P, MANCARDI GL, CALVO A, MUTANI R, CORBO M, SCIMÉ R, LEONE G, PETRINI M, GUALANDI F, MELAZZINI M, TARELLA C., CAPONNETTO, Chiara, LA BELLA, Vincenzo, CHIÒ A, MORA G, CAPONNETTO C, SICILIANO G, SABATELLI M, LA BELLA V, SILANI V, MOGLIA C, TONALI P, MANCARDI GL, CALVO A, MUTANI R, CORBO M, SCIMÉ R, LEONE G, PETRINI M, GUALANDI F, MELAZZINI M, and TARELLA C

Subjects
Settore MED/26 - Neurologia
Published
2007

18. Intense immunosuppression followed by autologous stem cell transplantation in severe multiple sclerosis

Author

Capello E, Saccardi R, Murialdo A, Gualandi F, Pagliai F, Bacigalupo A, Marmont A, Uccelli A, Inglese M, Bruzzi P, Sormani MP, Cocco E, Meucci G, Massacesi L, Bertolotto A, Lugaresi A, Merelli E, Solari A, Filippi M, Mancardi GL, Italian GITMO-Neuro Intergroup on ASCT for Multiple Sclerosis, La Nasa G, Marrosu MG, Derchi V, Di Bartolomeo P, Farina D, Iarlori C, Tartaro A, Repice A, Pellicanò G, Dogliotti L, Parodi RC, Schenone A, Donelli A, Casoni F, Cavalleri F, Capobianco M, Guerrasio A, Duca S, Papineschi F, Scappini B, Mosti S, Abbruzzese A, Capello, E, Saccardi, R, Murialdo, A, Gualandi, F, Pagliai, F, Bacigalupo, A, Marmont, A, Uccelli, A, Inglese, M, Bruzzi, P, Sormani, Mp, Cocco, E, Meucci, G, Massacesi, L, Bertolotto, A, Lugaresi, A, Merelli, E, Solari, A, Filippi, M, Mancardi, Gl, Italian GITMO-Neuro Intergroup on ASCT for Multiple, Sclerosi, La Nasa, G, Marrosu, Mg, Derchi, V, Di Bartolomeo, P, Farina, D, Iarlori, C, Tartaro, A, Repice, A, Pellicanò, G, Dogliotti, L, Parodi, Rc, Schenone, A, Donelli, A, Casoni, F, Cavalleri, F, Capobianco, M, Guerrasio, A, Duca, S, Papineschi, F, Scappini, B, Mosti, S, and Abbruzzese, A

Subjects
Oncology, Adult, medicine.medical_specialty, Multiple Sclerosis, medicine.medical_treatment, Inflammation, Dermatology, Transplantation, Autologous, Severity of Illness Index, methods, Autologous stem-cell transplantation, Internal medicine, medicine, Humans, Severe disability, Salvage Therapy, Transplantation, Adult, Hematopoietic Stem Cell Transplantation, methods, Humans, Immunosuppressive Agents, therapeutic use, Italy, Magnetic Resonance Imaging, Multiple Sclerosis, diagnosis/immunology/therapy, Salvage Therapy, Severity of Illness Index, Transplantation, Autologous, Treatment Outcome, business.industry, Multiple sclerosis, Hematopoietic Stem Cell Transplantation, diagnosis/immunology/therapy, Immunosuppression, General Medicine, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Haematopoiesis, Treatment Outcome, Italy, therapeutic use, Neurology (clinical), medicine.symptom, Stem cell, business, Autologous, Immunosuppressive Agents
Abstract

Aggressive forms of multiple sclerosis (MS) represent a limited group of demyelinating diseases that rapidly progress to severe disability. Currently available therapies are poorly effective against these clinical entities. Recently, it has been demonstrated that intense immunosuppression followed by autologous haematopoietic stem cell transplantation (AHSCT) can affect the clinical course of individuals with severe MS and completely abrogate the inflammatory activity detected by MRI. We report the result of the Italian phase 2 GITMO study, a multicentre study in which 21 MS patients, who were rapidly deteriorating and not responding to the usual therapeutic strategies, were treated with this procedure. The clinical effect of the treatment is long lasting, with a striking abrogation of inflammation detected by MRI findings. These results support a role for intense immunosuppression followed by ASCT as treatment in rapidly evolving MS cases unresponsive to conventional therapies.

Published
2005

19. Effect of ethylic alcohol on attentive functions involved in driving abilities

Author

Bivona, U, Garbarino, S, Rigon, J, Buzzi, Mg, Onder, Graziano, Matteis, M, Catani, S, Giustini, M, Mancardi, Gl, Formisano, R., Onder, Graziano (ORCID:0000-0003-3400-4491), Bivona, U, Garbarino, S, Rigon, J, Buzzi, Mg, Onder, Graziano, Matteis, M, Catani, S, Giustini, M, Mancardi, Gl, Formisano, R., and Onder, Graziano (ORCID:0000-0003-3400-4491)

Abstract

The burden of injuries due to drunk drivers has been estimated only indirectly. Indeed, alcohol is considered one of the most important contributing cause of car crash injuries and its effect on cognitive functions needs to be better elucidated. Aims of the study were i) to examine the effect of alcohol on attentive abilities involved while driving, and ii) to investigate whether Italian law limits for safe driving are sufficiently accurate to prevent risky behaviours and car crash risk while driving. We conducted a cross-over study at IRCCS Fondazione Santa Lucia Rehabilitation Hospital in Rome. Thirty-two healthy subjects were enrolled in this experiment. Participants were submitted to an attentive test battery assessing attention before taking Ethylic Alcohol (EA-) and after taking EA (EA+). In the EA+ condition subjects drank enough wine until the blood alcohol concentration, measured by means of Breath Analyzer, was equal to or higher than 0.5 g/l. Data analysis revealed that after alcohol assumption, tonic and phasic alertness, selective, divided attention and vigilance were significantly impaired when BAC level was at least 0.5 g/l. These data reveal that alcohol has a negative effect on attentive functions which are primarily involved in driving skills and that Italian law limits are adequate to prevent risky driving behaviour.

Published
2015

20. Brain tissue loss occurs after suppression of enhancement in patients with multiple sclerosis treated with autologous haematopoietic stem cell transplantation

Author

Inglese M, Mancardi GL, Pagani E, Rocca MA, Murialdo A, Saccardi R, Comi G, Filippi M, Italian GITMO-NEURO Group on Autologous Hematopoietic Stem Cell Transplantation., Inglese, M, Mancardi, Gl, Pagani, E, Rocca, Ma, Murialdo, A, Saccardi, R, Comi, G, Filippi, M, and Italian GITMO-NEURO Group on Autologous Hematopoietic Stem Cell, Transplantation.

Published
2004

21. Cerebrospinal fluid findings in Devic?s neuromyelitis optica

Author

Zaffaroni, M, Trojano, M, Paolicelli, D, Capra, R, Salvi, F, Pastorelli, F, Marrosu, G, Cocco, E, Patti, Francesco, Tola, R, Caniatti, L, Amato, Mp, Ghezzi, A, Mancardi, Gl, Murialdo, A, Roccatagliata, L, Milanese, C, La Mantia, L, Comi, G, Martinelli, V, Filippi, M, Merelli, E, Sola, P, Bergamaschi, R, Tonietti, S, Gallo, P, Perini, P, and Bertolotto, A.

Subjects
Adult, Male, medicine.medical_specialty, Pathology, Neurology, Adolescent, Immunoglobulins, Lymphocytosis, Dermatology, Spinal Puncture, Diagnosis, Differential, White matter, Cerebrospinal fluid, medicine, Humans, Child, Pleocytosis, Aged, Neuromyelitis optica, medicine.diagnostic_test, business.industry, Lumbar puncture, Multiple sclerosis, Neuromyelitis Optica, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, medicine.anatomical_structure, Child, Preschool, Female, Neurology (clinical), Differential diagnosis, business
Abstract

Relapsing Devic's neuromyelitis optica (DNO) may be clinically undistinguishable from multiple sclerosis (MS), thus the differential diagnosis relies mainly on neuroimaging and cerebrospinal fluid (CSF) findings. We studied CSF samples from 44 patients with DNO submitted to at least one lumbar puncture. Pleocytosis, IgG synthesis and blood brain barrier damage were the most frequent abnormalities, pleocytosis being very suggestive of DNO in patients fulfilling clinical and MRI diagnostic criteria. Pleocytosis > or =50 cells/mm3 is more frequent in the active phases of the disease. Oligoclonal bands (OBs) should be re-considered within the diagnostic criteria of DNO for possible variations in time: at variance with MS they may also disappear. Thus, more than one CSF examination should be done in the presence of suspected DNO, preferably in different disease phases. Although uncommon, OBs do not exclude DNO if optic nerve and spinal cord are the only sites of white matter damage, provided that cerebral MRI is normal at onset and during follow up.

Published
2004

22. Epidural analgesia and cesarean delivery in multiple sclerosis post-partum relapses: the Italian cohort study

Author

Pastò, L, Portaccio, E, Ghezzi, A, Hakiki, B, Giannini, M, Razzolini, L, Piscolla, E, De Giglio, L, Pozzilli, C, Paolicelli, D, Trojano, M, Marrosu, Mg, Patti, Francesco, La Mantia, L, Mancardi, Gl, Solaro, C, Totaro, R, Tola, Mr, Di Tommaso, V, Lugaresi, A, Moiola, L, Martinelli, V, Comi, G, Amato, Mp, MS Study Group of the Italian Neurological Society, Luisa Pastò, Emilio Portaccio, Angelo Ghezzi, Bahia Hakiki, Marta Giannini, Lorenzo Razzolini, Elisa Piscolla, Laura Giglio, Carlo Pozzilli, Damiano Paolicelli, Maria Trojano, Maria Giovanna Marrosu, Francesco Patti, Loredana Mantia, Gian Luigi Mancardi, Claudio Solaro, Rocco Totaro, Maria Rosaria Tola, Valeria Tommaso, Alessandra Lugaresi, Lucia Moiola, Vittorio Martinelli, Giancarlo Comi, and Maria Pia Amato

Subjects
Adult, medicine.medical_specialty, Multiple Sclerosis, Multivariate analysis, Epidural analgesia, Clinical Neurology, Context (language use), cesarean section adverse effect, lcsh:RC346-429, postpartum period, Cohort Studies, Disability Evaluation, Pregnancy, medicine, Humans, Prospective cohort study, Caesarean delivery, lcsh:Neurology. Diseases of the nervous system, Full Term, Cesarean Section, Obstetrics, business.industry, Multiple sclerosis, Epidural adverse effect, General Medicine, medicine.disease, Analgesia, Epidural, Multiple Sclerosis etiology, Anesthesia, Disease Progression, Female, Neurology (clinical), Analgesia, business, Postpartum period, Research Article, Cohort study
Abstract

Background Few studies have systematically addressed the role of epidural analgesia and caesarean delivery in predicting the post-partum disease activity in women with Multiple Sclerosis (MS). The objective of this study was to assess the impact of epidural analgesia (EA) and caesarean delivery (CD) on the risk of post-partum relapses and disability in women with MS. Methods In the context of an Italian prospective study on the safety of immunomodulators in pregnancy, we included pregnancies occurred between 2002 and 2008 in women with MS regularly followed-up in 21 Italian MS centers. Data were gathered through a standardized, semi-structured interview, dealing with pregnancy outcomes, breastfeeding, type of delivery (vaginal or caesarean) and EA. The risk of post-partum relapses and disability progression (1 point on the Expanded Disability Status Sclae, EDSS, point, confirmed after six months) was assessed through a logistic multivariate regression analysis. Results We collected data on 423 pregnancies in 415 women. Among these, 349 pregnancies resulted in full term deliveries, with a post-partum follow-up of at least one year (mean follow-up period 5.5±3.1 years). One hundred and fifty-five patients (44.4%) underwent CD and 65 (18.5%) EA. In the multivariate analysis neither CD, nor EA were associated with a higher risk of post-partum relapses. Post-partum relapses were related to a higher EDSS score at conception (OR=1.42; 95% CI 1.11-1.82; p=0.005), a higher number of relapses in the year before pregnancy (OR=1.62; 95% CI 1.15-2.29; p=0.006) and during pregnancy (OR=3.07; 95% CI 1.40-6.72; p=0.005). Likewise, CD and EA were not associated with disability progression on the EDSS after delivery. The only significant predictor of disability progression was the occurrence of relapses in the year after delivery (disability progression in the year after delivery: OR= 4.00; 95% CI 2.0-8.2; p Conclusions Our findings, show no correlation between EA, CD and postpartum relapses and disability. Therefore these procedures can safely be applied in MS patients. On the other hand, post-partum relapses are significantly associated with increased disability, which calls for the need of preventive therapies after delivery.

Published
2012

23. Trapianto autologo di cellule staminali emolinfopoietiche nella sclerosi multipla

Author

Mancardi GL, Saccardi R, Murialdo A, Inglese I, Marrosu MG, Meucci G, Massacesi L, Lugaresi A, Marmont AM, e. il Gruppo Italiano sul Trapianto Autologo di Cellule Staminali Emolinfopoietiche nella Sclerosi Multipla, FILIPPI , MASSIMO, Mancardi, Gl, Saccardi, R, Murialdo, A, Inglese, I, Marrosu, Mg, Meucci, G, Massacesi, L, Lugaresi, A, Marmont, Am, Filippi, Massimo, and E., il Gruppo Italiano sul Trapianto Autologo di Cellule Staminali Emolinfopoietiche nella Sclerosi Multipla

Published
2000

24. Development and validation of a patient self-assessed questionnaire on satisfaction with communication of the multiple sclerosis diagnosis

Author

Solari, A, Mattarozzi, K, Vignatelli, L, Giordano, A, Russo, P, Messmeruccelli, M, D'Alessandro, R, Pucci, E, Martinelli, V, Uccelli, Mm, Borreani, C, Trojano, M, Heesen, C, Mancardi, Gl, Milanese, C, Galimberti, S, Calabrese, D, Ferrari, G, Confalonieri, P, Mantegazza, R, Maggi, L, Colombo, B, Esposito, F, Moiola, L, Rodegher, M, Radaelli, M, Granella, F, Immovilli, P, Dalla Bella, E, Lugaresi, A, De Luca, G, Mattoscio, M, Di Ioia, M, Travaglini, D, Farina, D, Zimatore, G, Plasmati, I, Tortorella, C, Orsolamalpighi, S, Guidolin, L, Leone, M, Motti, L, Tola, Mr, Montanari, E, Guareschi, A, Pesci, I, Pattini, M, Feo, C, Torricelli, L, Santangelo, M, Stecchi, S, Scandellari, C, Balugani, R, La Mola, L, Montagna, P, Pizza, F, Avoni, P, Baldin, E, Delaj, L, Rinaldi, R, Baldi, E, Caniatti, L, Milani, P, Mussuto, V, Manzoni, M, Casmiro, M, Fiorani, L, Galeotti, M, Guerrini, C, Neri, W, Mambelli, L, Malagù, S, Naldi, P, Calzoni, S, Collimedaglia, L, Pietrolongo, E, Di Tommaso, V, Pace, M, Benedetti, M, Rossi, F, Pastoretrossello, M, Faccioli, L, Spinardi, L., Solari A., Mattarozzi K., Vignatelli L., Giordano A., Russo P.M., Uccelli M.M., D'Alessandro R., Montagna P., Pizza F., Avoni P., Baldin E., Delaj L., SIMS-Trial group, and GERONIMUS group.

Subjects
Questionnaires, Adult, Male, medicine.medical_specialty, Neurology, Multiple Sclerosis, Psychometrics, Adolescent, Adolescent, Adult, Aged, Cognition, physiology, Communication, Disease Progression, Early Diagnosis, Factor Analysis, Statistical, Female, Humans, Male, Middle Aged, Multiple Sclerosis, psychology, Patient Satisfaction, Physician-Patient Relations, Psychiatric Status Rating Scales, Questionnaires, Reproducibility of Results, Young Adult, Newly diagnosed, psychology, Young Adult, Patient satisfaction, DIAGNOSIS COMMUNICATION, Cognition, Surveys and Questionnaires, medicine, Humans, Aged, Psychiatric Status Rating Scales, Physician-Patient Relations, PSYCHOMETRICS, business.industry, Multiple sclerosis, Communication, Reproducibility of Results, Statistical, Middle Aged, medicine.disease, Surgery, Clinical trial, Early Diagnosis, Patient Satisfaction, physiology, PATIENT-REPORTED OUTCOMES, Physical therapy, Disease Progression, Female, Neurology (clinical), business, Factor Analysis, Statistical, Factor Analysis
Abstract

Background: We describe the development and clinical validation of a patient self-administered tool assessing the quality of multiple sclerosis diagnosis disclosure. Method: A multiple sclerosis expert panel generated questionnaire items from the Doctor’s Interpersonal Skills Questionnaire, literature review, and interviews with neurology inpatients. The resulting 19-item Comunicazione medico-paziente nella Sclerosi Multipla (COSM) was pilot tested/debriefed on seven patients with multiple sclerosis and administered to 80 patients newly diagnosed with multiple sclerosis. The resulting revised 20-item version (COSM-R) was debriefed on five patients with multiple sclerosis, field tested/debriefed on multiple sclerosis patients, and field tested on 105 patients newly diagnosed with multiple sclerosis participating in a clinical trial on an information aid. The hypothesized monofactorial structure of COSM-R section 2 was tested on the latter two groups. Results: The questionnaire was well accepted. Scaling assumptions were satisfactory in terms of score distributions, item—total correlations and internal consistency. Factor analysis confirmed section 2’s monofactorial structure, which was also test—retest reliable (intraclass correlation coefficient [ICC] 0.73; 95% CI 0.54—0.85). Section 1 had only fair test—retest reliability (ICC 0.45; 95% CI 0.12—0.69), and three items had 8—21% missed responses. Conclusions: COSM-R is a brief, easy-to-interpret MS-specific questionnaire for use as a health care indicator.

Published
2010

26. The Multiple Sclerosis Knowledge Questionnaire: a self-administered instrument for recently diagnosed patients

Author

Giordano, A, Uccelli, Mm, Pucci, E, Martinelli, V, Borreani, C, Lugaresi, A, Trojano, M, Granella, F, Confalonieri, P, Radice, D, Solari, A, D'Alessandro, R, Heesen, C, Mancardi, Gl, Milanese, C, Galimberti, S, Calabrese, D, Ferrari, G, Mattarozzi, K, Antozzi, C, Lauria, G, La Mantia, L, Pedotti, R, Mantegazza, R, Maggi, L, Colombo, B, Esposito, F, Moiola, L, Rodegher, M, Radaelli, M, Immovilli, P, Dalla Bella, E, De Luca, G, Mattoscio, M, Di Ioia, M, Pace, M, Travaglini, D, Maruotti, V, Farina, D, Zimatore, G, Plasmati, I, Tortorella, C., Giordano A., Uccelli M.M., Pucci E., Martinelli V., Borreani C., Lugaresi A., Trojano M., Granella F., Confalonieri P., Radice D., Solari A., D'Alessandro R., Heesen C., Mancardi G.L., Milanese C., Galimberti S., Calabrese D., Ferrari G., Mattarozzi K., Antozzi C., Lauria G., La Mantia L., Pedotti R., Mantegazza R., Maggi L., Colombo B., Esposito F., Moiola L., Rodegher M., Radaelli M., Immovilli P., Dalla Bella E., De Luca G., Mattoscio M., Di Ioia M., Pace M., Travaglini D., Maruotti V., Farina D., Zimatore G., Plasmati I., Tortorella C., (SIMS-Trial group)., Giordano, A., Uccelli, M. M., Pucci, E., Martinelli, V., Borreani, C., Lugaresi, A., Trojano, M., Granella, F., Confalonieri, P., Radice, D., Solari, A., D'Alessandro, R., Heesen, C., Mancardi, G. L., Milanese, C., Galimberti, S., Calabrese, D., Ferrari, G., Mattarozzi, K., Antozzi, C., Lauria, G., La Mantia, L., Pedotti, R., Mantegazza, R., Maggi, L., Colombo, B., Esposito, F., Moiola, L., Rodegher, M., Radaelli, M., Immovilli, P., Dalla Bella, E., De Luca, G., Mattoscio, M., Di Ioia, M., Pace, M., Travaglini, D., Maruotti, V., Farina, D., Zimatore, G., Plasmati, I., and Tortorella, C.

Subjects
Questionnaires, Male, law.invention, Disability Evaluation, Randomized controlled trial, Informed consent, law, Surveys and Questionnaires, Multiple Sclerosi, Content validity, Surveys and Questionnaire, Medicine, Young adult, Patient-reported outcome, Informed Consent, Psychiatric Status Rating Scale, Middle Aged, Newly diagnosed, Test (assessment), Knowledge, Neurology, Italy, drug therapy/psychology, Female, Human, Adult, Employment, medicine.medical_specialty, Multiple Sclerosis, Logistic Model, Adolescent, multiple sclerosis, questionnaire, MEDLINE, Reproducibility of Result, Education, Young Adult, Patient Education as Topic, Adolescent, Adult, Disability Evaluation, Education, Employment, Female, Humans, Informed Consent, Italy, Logistic Models, Male, Middle Aged, Multiple Sclerosis, drug therapy/psychology, Patient Education as Topic, Psychiatric Status Rating Scales, Questionnaires, Reproducibility of Results, Young Adult, Humans, Psychiatric Status Rating Scales, Questionnaire, business.industry, Construct validity, Reproducibility of Results, Surgery, Clinical trial, Logistic Models, Measurement development, Physical therapy, Neurology (clinical), business
Abstract

There are few studies on patient knowledge in multiple sclerosis (MS), and only two published questionnaires. The objective of this article was to develop and validate the MS Knowledge Questionnaire (MSKQ), a self-assessed instrument for newly diagnosed MS patients. Thirty multiple-choice statements, conceived to test MS knowledge, were produced by a multidisciplinary panel and pre-tested on three MS patients, resulting in an intermediate 26-item version. This was tested on 54 MS patients for internal consistency, content and construct validity (validation sample I). The final (25-item) MSKQ was a primary outcome measure in the SIMS-Trial on an information aid to newly diagnosed MS patients. Postal responses of SIMS-Trial participants to the MSKQ a month after intervention (validation sample II) were analysed. Median MSKQ scores in validation samples I and II were, respectively, 18 (range 9—23) and 17 (range 3—24). Acceptability, internal consistency (Kuder—Richardson-20 formula 0.76) and content validity were good. Educational attainment and receiving the information aid were the main independent predictors of MS knowledge. Other predictors were female sex (positive association) and disease duration (negative association). In conclusion, the MSKQ has good clinimetric properties and is sensitive to an educational intervention. We propose the MSKQ as a brief instrument for clinical practice and research.

Published
2009

27. Non invasive surveillance of JCV reactivation in blood and urine from natalizumab treated MS patients, blood donors and immunocompromised patients identifies two PML cases in HIV and congenital immunodeficiency patients

Author

Varnier, Oliviero, Mcdermott, Jl, Giacomazzi, Cg, Perotti, M, Martini, I, Rolla, D, Cannella, G, Bacigalupo, A, Indiveri, F, Viscoli, Claudio, Capello, E, and AND MANCARDI GL, UCCELLI A.

Subjects
JV Polyomavirus, Multiple Sclerosis, drug therapy, Multiple Sclerosis, drug therapy
Published
2009

28. A pilot trial of G-CSF in amyotrophic lateral sclerosis

Author

Chio', Adriano, Mora, G, Caponnetto, C, Siciliano, G, Sabatelli, M, La Bella, V, Silani, V, Moglia, Cristina, Mancardi, Gl, Tonali, P, Calvo, Andrea, Mutani, Roberto, Corbo, M, Scime’, R, D’Onofrio, G, Petrini, M, Gualandi F, Melazzini M., and Tarella, Corrado

Subjects
Settore MED/15 - Malattie del Sangue
Published
2008

29. Interferon beta therapy and pregnancy outcomes in patients with multiple sclerosis

Author

Portaccio, E, Ghezzi, A, Rizzo, A, Zipoli, V, Hakiki, B, Pellegrini, F, DE GIGLIO, L, Pozzilli, C, Fuiani, A, Trojano, M, Musu, L, Marrosu, Mg, Cavallaro, T, Patti, Francesco, Milanese, C, LA MANTIA, L, Capello, E, Mancardi, Gl, Protti, A, Tola, M, DI TOMMASO, V, Lugaresi, A, Martinelli, V, Comi, G, Amato, Mp, and FOR THE MS STUDY GROUP OF THE ITALIAN NEUROLOGICAL SOCIETY

Published
2008

30. Frequency and risk factors of mitoxantrone-induced amenorrhea in multiple sclerosis: the FEMIMS study

Author

Cocco, E, Sardu, C, Gallo, P, Capra, R, Amato, Mp, Trojano, M, Uccelli, A, Marrosu, Mg, Galeotti, M, Cordioli, C, Massole, S, Musu, L, Coghe, G, Patti, Francesco, Lugaresi, A, Tola, Mr, Zipoli, V, Mancardi, Gl, Capello, E, Solaro, C, Caputo, C, Cavarretta, R, Merelli, E, Perini, P, Francia, A, Batocchi, Ap, Ergamaschi, R, Tavazzi, E, Cavalla, P, Masera, S, Bertolotto, A, Capobianco, M, Zorzon, M, Ghezzi, A, Zaffaroni, M., COCCO E, SARDU C, GALLO P, CAPRA R, AMATO MP, TROJANO M, UCCELLI A, MARROSU MG, THE FEMIMS GROUP, and A. LUGARESI

Subjects
Adult, Male, Questionnaires, medicine.medical_specialty, Multiple Sclerosis, media_common.quotation_subject, Fertility, Young Adult, Risk Factors, Internal medicine, medicine, Humans, Risk factor, Young adult, Amenorrhea, media_common, Retrospective Studies, Menarche, Mitoxantrone, Cumulative dose, business.industry, Retrospective cohort study, medicine.disease, multiple sclerosis, mitoxantrone, treatment, amenorrhea, drug therapy/epidemiology, Menopause, Settore MED/26 - NEUROLOGIA, Endocrinology, Neurology, Adult, Amenorrhea, chemically induced/epidemiology, Female, Follow-Up Studies, Humans, Immunosuppressive Agents, adverse effects, Infertility, Female, chemically induced/epidemiology, Male, Menarche, Menopause, Mitoxantrone, adverse effects, Multiple Sclerosis, drug therapy/epidemiology, Questionnaires, Retrospective Studies, Risk Factors, Young Adult, Infertility, adverse effects, chemically induced/epidemiology, Neurology (clinical), medicine.symptom, business, Infertility, Female, Immunosuppressive Agents, medicine.drug, Follow-Up Studies
Abstract

Background Improved prognosis in women with multiple sclerosis (MS) undergoing immunosuppressive treatment with mitoxantrone (MITO) has led to an increased interest in the effect of such treatments on fertility. FErtility and Mitoxantrone In MS (FEMIMS) is a collaborative retrospective study aimed at evaluating the impact of MITO treatment on fertility in women with MS. Methods Occurrence of chemotherapy-induced amenorrhea (CIA) was evaluated in 189 women with MS treated with MITO before the age of 45. An “ad hoc” questionnaire, paying particular attention to onset of CIA either during or post-MITO treatment, was administered to each patient. The probability of CIA was calculated using a multivariate logistic regression analysis taking into account age at exposure, cumulative dose, and use of estroprogestinic (EP) drugs during treatment. Results Forty-eight (26%) patients presented CIA following MITO. The probability of CIA was increased by 2%/mg/m2 of cumulative dose and by 18% for each year of age, whereas it was reduced by administration of EP during treatment. Conclusions MITO treatment may affect reproductive capacity in women with MS. Patients of childbearing age should be properly counseled before MITO treatment and EP therapy should be administered to reduce the risk of CIA.

Published
2008

35. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol

Author

Pareyson, D, Schenone, A, Fabrizi, Gm, Santoro, L, Padua, L, Quattrone, A, Vita, G, Gemignani, F, Visioli, F, Solari, A, Salsano, E, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Cavallaro, T, Bertolasi, L, Casano, A, Manganelli, F, Nolano, M, Pazzaglia, C, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Girlanda, P, Majorana, G, Ciranni, A, Lanzano, N, Brindani, F, Lettieri, C, Bogani, P, Hughes, Rac, Mancardi, Gl, Cavaletti, G, Galimberti, S, Radice, D, Calabrese, D, and Ferrari, G.

Published
2006

36. Prevalence of atopy in multiple sclerosis patients: a case-control study

Author

Solaro, C., Uccelli, Mm, Guglieri, P., Murialdo Alessandra, Sormani, Mp, Battaglia, Ma, and Mancardi, Gl

Subjects
Adult, Aged, 80 and over, Hypersensitivity, Immediate, Male, Logistic Models, Multiple Sclerosis, Case-Control Studies, Surveys and Questionnaires, Prevalence, Humans, Female, Middle Aged, Aged
Published
2001

37. FUS mutations in sporadic amyotrophic lateral sclerosis

Author

Lai, S, Abramzon, Y, Schymick, Jc, Stephan, Da, Dunckley, T, Dillman, A, Cookson, M, Calvo, A, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, Spataro, R, Monsurro, Mr, Tedeschi, G, Marinou, K, Sabatelli, Mario, Conte, Amelia, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Lombardo, F, Mora, G, Restagno, G, Chiò, A, Traynor, Bj, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Lai, S, Abramzon, Y, Schymick, Jc, Stephan, Da, Dunckley, T, Dillman, A, Cookson, M, Calvo, A, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, Spataro, R, Monsurro, Mr, Tedeschi, G, Marinou, K, Sabatelli, Mario, Conte, Amelia, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Lombardo, F, Mora, G, Restagno, G, Chiò, A, Traynor, Bj, and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.

Published
2011

38. Rituximab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a report of 13 cases and review of the literature.

Author

Benedetti, L, Briani, C, Sabatelli, Mario, Luigetti, Marco, Cocito, D, Franciotta, D, Fazio, R, Paolasso, I, Comi, C, Giannini, F, Mancardi, Gl, Schenone, A, Nobile Orazio, E., Sabatelli, Mario (ORCID:0000-0001-6635-4985), Luigetti, Marco (ORCID:0000-0001-7539-505X), Benedetti, L, Briani, C, Sabatelli, Mario, Luigetti, Marco, Cocito, D, Franciotta, D, Fazio, R, Paolasso, I, Comi, C, Giannini, F, Mancardi, Gl, Schenone, A, Nobile Orazio, E., Sabatelli, Mario (ORCID:0000-0001-6635-4985), and Luigetti, Marco (ORCID:0000-0001-7539-505X)

Abstract

Background A few case reports have shown controversial results of rituximab efficacy in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Objective To analyse the efficacy of rituximab in a large CIDP cohort. Methods A retrospective, observational and multicentre study on the use of rituximab in CIDP. 13 Italian CIDP patients were treated with rituximab after the partial or complete lack of efficacy of conventional therapies. Eight patients had co-occurring haematological diseases. Patients who improved by at least two points in standard clinical scales, or who reduced or discontinued the pre-rituximab therapies, were considered as responders. Results Nine patients (seven with haematological diseases) responded to rituximab: six of them, who were non-responders to conventional therapies, improved clinically, and the other three maintained the improvement that they usually achieved with intravenous immunoglobulin or plasma exchange. Significantly associated with shorter disease duration, rituximab responses started after a median period of 2.0 months (range, 1-6) and lasted for a median period of 1 year (range, 1-5). Conclusions Rituximab seems to be a promising therapeutic choice when it targets both CIDP and co-occurring haematological diseases. Timely post-onset administration of rituximab seems to be associated with better responses.

Published
2011
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39. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

Author

Chiò, A, Schymick, Jc, Restagno, G, Scholz, Sw, Lombardo, F, Lai, S, Mora, G, Fung, H, Britton, A, Arepalli, S, Gibbs, Jr, Nalls, M, Berger, S, Kwee, Lc, Oddone, Ez, Ding, J, Crews, C, Rafferty, I, Washecka, N, Hernandez, D, Ferrucci, L, Bandinelli, S, Guralnik, J, Macciardi, F, Torri, F, Lupoli, S, Chanock, Sj, Thomas, G, Hunter, Dj, Gieger, C, Wichmann, He, Calvo, A, Mutani, R, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, La Bella, V, Valentino, F, Monsurrò, Mr, Tedeschi, G, Marinou, K, Sabatelli, Mario, Conte, Amelia, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Siciliano, G, Carlesi, C, Orrell, Rw, Talbot, K, Simmons, Z, Connor, J, Pioro, Ep, Dunkley, T, Stephan, Da, Kasperaviciute, D, Fisher, Em, Jabonka, S, Sendtner, M, Beck, M, Bruijn, L, Rothstein, J, Schmidt, S, Singleton, A, Hardy, J, Traynor, Bj, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Chiò, A, Schymick, Jc, Restagno, G, Scholz, Sw, Lombardo, F, Lai, S, Mora, G, Fung, H, Britton, A, Arepalli, S, Gibbs, Jr, Nalls, M, Berger, S, Kwee, Lc, Oddone, Ez, Ding, J, Crews, C, Rafferty, I, Washecka, N, Hernandez, D, Ferrucci, L, Bandinelli, S, Guralnik, J, Macciardi, F, Torri, F, Lupoli, S, Chanock, Sj, Thomas, G, Hunter, Dj, Gieger, C, Wichmann, He, Calvo, A, Mutani, R, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, La Bella, V, Valentino, F, Monsurrò, Mr, Tedeschi, G, Marinou, K, Sabatelli, Mario, Conte, Amelia, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Siciliano, G, Carlesi, C, Orrell, Rw, Talbot, K, Simmons, Z, Connor, J, Pioro, Ep, Dunkley, T, Stephan, Da, Kasperaviciute, D, Fisher, Em, Jabonka, S, Sendtner, M, Beck, M, Bruijn, L, Rothstein, J, Schmidt, S, Singleton, A, Hardy, J, Traynor, Bj, and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 [odds ratio (OR) = 1.17 and 1.18, and P-values = 6.98 x 10(-7) and 1.16 x 10(-6)], were located on chromosome 7p13.3 within a 175 kb linkage disequilibrium block containing the SUNC1, HUS1 and C7orf57 genes. These associations did not achieve genome-wide significance in the original cohort and failed to replicate in an additional independent cohort of 989 US cases and 327 controls (OR = 1.18 and 1.19, P-values = 0.08 and 0.06, respectively). Thus, we chose to cautiously interpret our data as hypothesis-generating requiring additional confirmation, especially as all previously reported loci for ALS have failed to replicate successfully. Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study. Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors.

Published
2009

40. Long-term effect of rituximab in anti-mag polyneuropathy

Author

Benedetti, L, Briani, C, Franciotta, D, Carpo, M, Padua, Luca, Zara, G, Zambello, R, Sormani, Mp, Mancardi, Gl, Nobile Orazio, E, Schenone, A., Padua, Luca (ORCID:0000-0003-2570-9326), Benedetti, L, Briani, C, Franciotta, D, Carpo, M, Padua, Luca, Zara, G, Zambello, R, Sormani, Mp, Mancardi, Gl, Nobile Orazio, E, Schenone, A., and Padua, Luca (ORCID:0000-0003-2570-9326)

Abstract

Recent studies showed that rituximab, a chimeric anti-CD20 monoclonal antibody, reduces antibody levels and ameliorates neuropathy in two thirds of patients with neuropathy and anti-myelin-associated glycoprotein (MAG) monoclonal IgM. Few data are available on the long-term effects of this therapy. We report on the long-term follow-up of rituximab responders with anti-MAG polyneuropathy.

Published
2008

43. Bovine spongiform encephalopathy and Creutzfeldt-Jakob disease: facts and uncertainties underlying the causal link between animal and human diseases

Author

Beghi, E, Gandolfo, C, Ferrarese, C, Rizzuto, N, Poli, G, Tonini, M, Vita, G, Leone, M, Logroscino, G, Granieri, E, Salemi, G, Savettieri, G, Frattola, L, Ru, G, Mancardi, G, Messina, C, Tonini, MC, Mancardi, GL, Messina, C., FERRARESE, CARLO, FRATTOLA, LODOVICO, Beghi, E, Gandolfo, C, Ferrarese, C, Rizzuto, N, Poli, G, Tonini, M, Vita, G, Leone, M, Logroscino, G, Granieri, E, Salemi, G, Savettieri, G, Frattola, L, Ru, G, Mancardi, G, Messina, C, Tonini, MC, Mancardi, GL, Messina, C., FERRARESE, CARLO, and FRATTOLA, LODOVICO

Abstract

Following an outbreak of bovine spongiform encephalopathy (BSE) in dairy cows in the United Kingdom (UK), 153 definite and probable human cases of new variant Creutzfeldt-Jakob disease (nvCJD) have been reported, almost exclusively in the UK. Although exposure to the BSE agent is the most plausible interpretation for the occurrence of nvCJD, the causal link between the BSE prion and nvCJD is still debated. This review discusses the pros and cons of nvCJD as a separate nosographic entity, the scientific basis for a correlation between BSE and nvCJD, the validity of the current diagnostic criteria for CJD and nvCJD, the contribution of epidemiology to the detection of a causal relation between BSE and nvCJD, and the present and future directions of the epidemiological research on BSE, CJD and nvCJD.

Published
2004

46. The results of two multicenter, open-label studies assessing efficacy, tolerability and safety of protiramer, a high molecular weight synthetic copolymeric mixture, in patients with relapsing–remitting multiple sclerosis

Author

De Stefano, N, primary, Filippi, M, additional, Confavreux, C, additional, Vermersch, P, additional, Simu, M, additional, Sindic, C, additional, Hupperts, R, additional, Bajenaru, O, additional, Edan, G, additional, Grimaldi, L, additional, Marginean, I, additional, Medaer, R, additional, Orefice, G, additional, Pascu, I, additional, Pelletier, J, additional, Sanders, E, additional, Scarpini, E, additional, and Mancardi, GL, additional

Published
2008
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47. Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families

Author

Bellone, E., Mandich, P., Mancardi, Gl, Schenone, A., Uccelli, A., Abbruzzese, M., Sghirlanzoni, A., Davide Pareyson, and Ajmar, F.

Subjects
Male, Blotting, Southern, Italy, Charcot-Marie-Tooth Disease, Multigene Family, Humans, Lod Score, Chromosomes, Human, Pair 17, Research Article
Published
1992

48. Is clinical variability in CMT1A related to epigenetic factors?

Author

Benedetti, L, primary, Zuccarino, R, additional, Grandis, M, additional, Fiocchi, I, additional, Beronio, A, additional, Ghiglione, E, additional, Bellone, E, additional, Mandich, P, additional, Abruzzese, M, additional, Mancardi, GL, additional, Lamba Doria, L, additional, and Schenone, A, additional

Published
2004
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