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2. International Validation of the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score

Author

Doets, Ay, Walgaard, C, Lingsma, Hf, Islam, B, Papri, N, Yamagishi, Y, Kusunoki, S, Dimachkie, Mm, Waheed, W, Kolb, N, Gorson, Kc, Jacobs, Bart, C, Marfia, Ga, Neurology, Public Health, Immunology, Medical Microbiology & Infectious Diseases, Work and Organizational Psychology, Department of Technology and Operations Management, Academic staff unit, Department of Business-Society Management, Pediatrics, Pharmacy, ANS - Neuroinfection & -inflammation, AII - Inflammatory diseases, EURO-NMD, Consortium, IGOS, and Rinaldi, S

Subjects
Cohort Studies, Neurology, Humans, Neurology (clinical), Prospective Studies, Respiratory Insufficiency/etiology, Guillain-Barre Syndrome, Respiratory Insufficiency, Settore MED/26, Respiration, Artificial, Guillain-Barre Syndrome/diagnosis
Abstract

Objective:This study aimed to validate the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score in the International Guillain–Barré Syndrome Outcome Study cohort, and to improve its performance and region-specificity. Methods:We examined data from the first 1,500 included patients, aged ≥6 years and not ventilated prior to study entry. Patients with a clinical variant or mild symptoms were also included. Outcome was mechanical ventilation within the first week from study entry. Model performance was assessed regarding the discriminative ability (area under the receiver operating characteristic curve) and the calibration (observed vs predicted probability of mechanical ventilation), in the full cohort and in Europe/North America and Asia separately. We recalibrated the model to improve its performance and region-specificity. Results:In the group of 1,023 eligible patients (Europe/North America n=842, Asia n=104, other n=77), 104 (10%) required mechanical ventilation within the first week from study entry. Area under the curve values were ≥0.80 for all validation subgroups. Mean observed proportions of mechanical ventilation were lower than predicted risks: full cohort 10% versus 21%, Europe/North America 9% versus 21%, and Asia 17% versus 23%. After recalibration, predicted risks for the full cohort and Europe/North America corresponded to observed proportions. Interpretation:This prospective, international cohort study validated the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score, and showed that the model can be used in the full spectrum of Guillain–Barré syndrome patients. In addition, a more accurate, region-specific version of the model was developed for patients from Europe/North America.

Published
2022

3. Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study

Author

Verboon, C, van den Berg, B, Cornblath, Dr, Venema, E, Gorson, Kc, Lunn, Mp, Lingsma, H, Van den Bergh, P, Harbo, T, Bateman, K, Pereon, Y, Sindrup, Sh, Kusunoki, S, Miller, J, Islam, Z, Hartung, Hp, Chavada, G, Jacobs, Bc, Hughes, Rac, van Doorn PA, Ajroud-Driss S, IGOS Consortium., Antonini, G, Attarian, S, Barroso, Fa, Benedetti, L, Bertorini, Te, Brannagan, Th, Briani, C, Bhavaraju-Sanka, R, Butterworth, S, Casasnovas, C, Cavaletti, G, Chen, S, Claeys, Kg, Cosgrove, Js, Davidson, A, Dardiotis, E, Dornonville de la Cour, C, Faber, Cg, Feasby, Te, Fujioka, T, Galassi, G, Gilchrist, Jm, Goyal, Na, Granit, V, Gutiérrez-Gutiérrez, G, Hadden, Rdm, Holt, Jkl, Htut, M, Jericó Pascual, I, Karafiath, S, Katzberg, Hd, Kiers, L, Kieseier, Bc, Kimpinski, K, Kuwabara, S, Kwan, Jy, Ladha, Ss, Lawson, V, Lehmann, H, Manji, H, Marfia, Ga, Márquez Infante, C, Mattiazzi, Mg, Mcdermott, Cj, Monges, Ms, Morís de la Tassa, G, Nascimbene, C, Nobile Orazio, E, Nowak, Rj, Osei-Bonsu, M, Pardo Fernandez, J, Querol Gutierrez, L, Reisin, R, Rinaldi, S, Rojas-Marcos, I, Rudnicki, Sa, Schenone, A, Sedano Tous MJ, Shahrizaila, N, Sheikh, K, Silvestri, Nj, Sommer, Cl, Varrato, Jd, Verschuuren, J, Vytopil, Mv, Zhou, L, Bella, Ir, Bunschoten, C, Bürmann, J, Busby, M, Chao, Cc, Conti, Me, Dalakas, Mc, Van Damme, P, Doets, A, van Dijk GW, Dimachkie, Mm, Doppler, K, Echaniz-Laguna, A, Eftimov, F, Fazio, R, Fokke, C, Fulgenzi, Ea, Garssen, Mpj, Gijsbers, Cj, Gilhuis, J, Grapperon, A, Hsieh, St, Illa, I, Islam, B, Jellema, K, Kaida, K, Kokubun, N, Kolb, N, van Koningsveld, R, van der Kooi AJ, Kuitwaard, K, Landschoff Lassen, L, Leonhard, Se, Mandarakas, M, Martinez Hernandez, E, Mohammad, Qd, Pulley, M, Rajabally, Ya, Reddel, Sw, van der Ree, T, Roodbol, J, Sachs, Gm, Samijn, Jpa, Santoro, L, Stein, B, Vermeij, Fh, Visser, Lh, Willison, Hj, Wirtz, P, Zivkovich, Sa., Neurology, Public Health, Immunology, and ANS - Neuroinfection & -inflammation

Subjects
Adult, Male, second IVIg course, Pediatrics, medicine.medical_specialty, Poor prognosis, Time Factors, Guillain-Barre Syndrome, Original research, Drug Administration Schedule, Disease course, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Clinical endpoint, Humans, Immunologic Factors, Medicine, In patient, Aged, treatment, Guillain-Barre syndrome, business.industry, Immunoglobulins, Intravenous, Middle Aged, poor prognosis, Prognosis, Guillain-Barré syndrome, medicine.disease, Psychiatry and Mental health, Treatment Outcome, Immunoglobulin G, 030220 oncology & carcinogenesis, Female, Surgery, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo compare disease course in patients with Guillain-Barré syndrome (GBS) with a poor prognosis who were treated with one or with two intravenous immunoglobulin (IVIg) courses.MethodsFrom the International GBS Outcome Study, we selected patients whose modified Erasmus GBS Outcome Score at week 1 predicted a poor prognosis. We compared those treated with one IVIg course to those treated with two IVIg courses. The primary endpoint, the GBS disability scale at 4 weeks, was assessed with multivariable ordinal regression.ResultsOf 237 eligible patients, 199 patients received a single IVIg course. Twenty patients received an ‘early’ second IVIg course (1–2 weeks after start of the first IVIg course) and 18 patients a ‘late’ second IVIg course (2–4 weeks after start of IVIg). At baseline and 1 week, those receiving two IVIg courses were more disabled than those receiving one course. Compared with the one course group, the adjusted OR for a better GBS disability score at 4 weeks was 0.70 (95%CI 0.16 to 3.04) for the early group and 0.66 (95%CI 0.18 to 2.50) for the late group. The secondary endpoints were not in favour of a second IVIg course.ConclusionsThis observational study did not show better outcomes after a second IVIg course in GBS with poor prognosis. The study was limited by small numbers and baseline imbalances. Lack of improvement was likely an incentive to start a second IVIg course. A prospective randomised trial is needed to evaluate whether a second IVIg course improves outcome in GBS.

Published
2019

4. Chronic inflammatory demyelinating polyradiculoneuropathy: can we make a diagnosis in patients not fulfilling electrodiagnostic criteria?

Author

Liberatore, G, Manganelli, F, Doneddu, Pe, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Mazzeo, A, Antonini, G, Cosentino, G, Jann, S, Cortese, A, Marfia, Ga, Clerici, Am, Siciliano, G, Carpo, M, Luigetti, M, Lauria, G, Rosso, T, Cavaletti, G, Santoro, L, Peci, E, Tronci, S, Ruiz, M, Piccinelli, Sc, Schenone, A, Leonardi, L, Toscano, A, Mataluni, G, Spina, E, Gentile, L, and Nobile-Orazio, E

Subjects
therapy, CIDP, EFNS/PNS
Published
2020

5. International Guillain-Barré Syndrome Outcome Study

Author

Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, Consortium, I, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Péréon, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bürmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Immunology, Neurology, Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Pã©rã©on, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bã¼rmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, G, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Rehabilitation medicine, Internal medicine, and ANS - Neuroinfection & -inflammation

Subjects
Male, Pediatrics, PROGNOSIS, diagnosis, International Cooperation, Guillain-Barré syndrome, biomarkers, outcome, prognosis, treatment, Guillain-Barre syndrome, Guillain-Barré syndrome, Neuroscience (all), Neurology (clinical), Cohort Studies, 0302 clinical medicine, Epidemiology, Outcome Assessment, Health Care, INFECTION, CRITERIA, 030212 general & internal medicine, General Neuroscience, Biobank, Observational Studies as Topic, diagnosi, Disease Progression, biomarker, Female, Settore MED/26 - Neurologia, medicine.symptom, prognosi, Cohort study, medicine.medical_specialty, Weakness, Guillain-Barre Syndrome, CLASSIFICATION, VALIDATION, 03 medical and health sciences, medicine, Humans, INTRAVENOUS IMMUNOGLOBULIN, Protocol (science), business.industry, Polyradiculoneuropathy, medicine.disease, ANTIBODIES, Observational study, business, COLLECTION, 030217 neurology & neurosurgery
Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1-3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017

6. Atypical CIDP: Diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

Author

Doneddu, P, Cocito, D, Manganelli, F, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Mazzeo, A, Marfia, G, Cortese, A, Fierro, B, Jann, S, Beghi, E, Clerici, A, Carpo, M, Schenone, A, Luigetti, M, Lauria, G, Antonini, G, Rosso, T, Siciliano, G, Cavaletti, G, Liberatore, G, Santoro, L, Peci, E, Tronci, S, Ruiz, M, Cotti Piccinelli, S, Toscano, A, Mataluni, G, Piccolo, L, Cosentino, G, Sabatelli, M, Nobile-Orazio, E, Doneddu, PE, Marfia, GA, Clerici, AM, Doneddu, P, Cocito, D, Manganelli, F, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Mazzeo, A, Marfia, G, Cortese, A, Fierro, B, Jann, S, Beghi, E, Clerici, A, Carpo, M, Schenone, A, Luigetti, M, Lauria, G, Antonini, G, Rosso, T, Siciliano, G, Cavaletti, G, Liberatore, G, Santoro, L, Peci, E, Tronci, S, Ruiz, M, Cotti Piccinelli, S, Toscano, A, Mataluni, G, Piccolo, L, Cosentino, G, Sabatelli, M, Nobile-Orazio, E, Doneddu, PE, Marfia, GA, and Clerici, AM

Abstract

Objectives A few variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been described, but their frequency and evolution to typical CIDP remain unclear. To determine the frequency and characteristics of the CIDP variants, their possible evolution to typical CIDP, and treatment response. Methods We applied a set of diagnostic criteria to 460 patients included in a database of Italian patients with CIDP. Clinical characteristics and treatment response were reviewed for each patient. The Kaplan-Meier curve was used to estimate the progression rate from atypical to typical CIDP. Results At the time of inclusion, 376 (82%) patients had a diagnosis of typical CIDP while 84 (18%) had atypical CIDP, including 34 (7%) with distal acquired demyelinating symmetric neuropathy (DADS), 17 (4%) with purely motor, 17 (4%) with Lewis-Sumner syndrome (LSS) and 16 (3.5%) with purely sensory CIDP. Based on retrospective review of the symptoms and signs present at onset and for at least 1 year, 180 (39%) patients had an initial diagnosis compatible with atypical CIDP that in 96 (53%) patients evolved to typical CIDP. Mean disease duration was longer in patients evolving to typical CIDP than in those not evolving (p=0.0016). Patients with DADS and LSS had a less frequent response to immunoglobulin than those with typical CIDP, while patients with purely motor and sensory CIDP had a similar treatment response. Conclusions The proportion of patients with atypical CIDP varies during the disease course. DADS and LSS have a less frequent response to intravenous immunoglobulin compared with typical CIDP, raising the possibility of a different underlying pathogenetic mechanism.

Published
2019

7. A cross-sectional study investigating frequency and features of definitely diagnosed diabetic painful polyneuropathy

Author

Truini, A, Spallone, V, Morganti, R, Tamburin, S, Zanette, G, Schenone, A, De Michelis, C, Tugnoli, V, Simioni, V, Manganelli, F, Dubbioso, R, Lauria, G, Lombardi, R, Jann, S, De Toni Franceschini, L, Tesfaye, S, Fiorelli, M, Spagnoli, A, Cruccu, G, Marfia, Ga, Truini, Andrea, Spallone, Vincenza, Morganti, Roberto, Tamburin, Stefano, Zanette, Giampietro, Schenone, Angelo, De Michelis, Chiara, Tugnoli, Valeria, Simioni, Valentina, Manganelli, Fiore, Dubbioso, Raffaele, Lauria, Giuseppe, Lombardi, Roberta, Jann, Stefano, De Toni Franceschini, Luisa, Tesfaye, Solomon, Fiorelli, Marco, Spagnoli, Alessandra, and Cruccu, Giorgio

Subjects
Male, Pediatrics, Diabetic neuropathy, Biopsy, Neural Conduction, Neuropathic pain, Settore MED/13 - Endocrinologia, 0302 clinical medicine, Diabetic Neuropathies, Outpatient clinic, Prospective Studies, Prospective cohort study, Pain Measurement, Skin, Aged, 80 and over, Neurologic Examination, Small-fibre neuropathy, medicine.diagnostic_test, small fibre neuropathy, Diabetes, Middle Aged, Neurology, Nerve conduction study, Settore MED/26 - Neurologia, Polyneuropathy, Adult, medicine.medical_specialty, neuropathic pain, peripheral neuropathy, diabetes, Small Fiber Neuropathy, 030209 endocrinology & metabolism, Physical examination, Young Adult, 03 medical and health sciences, Diabetes mellitus, medicine, Humans, Aged, business.industry, medicine.disease, Neurology (clinical), Anesthesiology and Pain Medicine, Cross-Sectional Studies, diabete, Skin biopsy, Neuralgia, diabetic neuropathy, neuropathic pain, small fibre neuropathy, Complication, business, 030217 neurology & neurosurgery
Abstract

This cross-sectional multicentre study aimed at investigating frequency and features of painful diabetic polyneuropathyWe consecutively enrolled 816 patients attending hospital diabetic outpatient clinics. We first definitely diagnosed diabetic polyneuropathy and pure small-fibre polyneuropathy using clinical examination, nerve conduction study, and skin biopsy or quantitative sensory testing. Adhering to widely agreed criteria, we then identified neuropathic pain and diagnosed painful polyneuropathy using a combined approach of clinical examination and diagnostic testsOut of the 816 patients, 36% had a diabetic polyneuropathy associated with male gender, age and diabetes severity; 2.5% of patients had a pure small-fibre polyneuropathy, unrelated to demographic variables and diabetes severity. Of the 816 patients, 115 (13%) suffered from a painful polyneuropathy, with female gender as the only risk factor for suffering from painful polyneuropathyIn this large study, providing a definite diagnosis of diabetic polyneuropathy and pure small-fibre polyneuropathy, we show the frequency of painful polyneuropathy, and demonstrate that this difficult to treat complication is more common in women than in men.

Published
2018

8. Regional variation of Guillain-Barré syndrome

Author

Doets, Alex Y., Verboon, Christine, Van Den Berg, Bianca, Harbo, Thomas, Cornblath, David R., Willison, Hugh J., Islam, Zhahirul, Attarian, Shahram, Barroso, Fabio A., Bateman, Kathleen, Benedetti, Luana, Van Den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govindsinh, Claeys, Kristl G., Dardiotis, Efthimios, Davidson, Amy, Van Doorn, Pieter A., Feasby, Tom E., Galassi, Giuliana, Gorson, Kenneth C., Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A. C., Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar C., Miller, James A. L., Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen W., Reisin, Ricardo C., Shahrizaila, Nortina, Sindrup, Soren H., Waqar, Waheed, Jacobs, Bart C., Jacobs, Bc, Hughes, Rac, Cornblath, Dr, Gorson, Kc, Hartung, Hp, Kusunoki, S, van Doorn PA, Willison, Hj, van Woerkom, M, van den Berg, B, Verboon, C, Doets, Ay, Roodbol, J, Reisin, Rc, Reddel, Sw, Islam, Z, Islam, B, Mohammad, Qd, van den Bergh, P, Feasby, Te, Harbo, T, Péréon, Y, Lehmann, Hc, Dardiotis, E, Nobile-Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, St, Chavada, G, Davidson, A, Addington, Jm, Ajroud-Driss, S, Andersen, H, Antonini, G, Ariatti, A, Attarian, S, Badrising, Ua, Barroso, Fa, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bunschoten, C, Bürmann, J, Bella, Ir, Bertorini, Te, Bhavaraju-Sanka, R, Brannagan, Th, Busby, M, Butterworth, S, Casasnovas, C, Cavaletti, G, Chao, Cc, Chetty, S, Claeys, Kg, Conti, Me, Cosgrove, Js, Dalakas, Mc, Derejko, Ma, Dimachkie, Mm, Doppler, K, Dornonville de la Cour, C, Echaniz-Laguna, A, Eftimov, F, Faber, Cg, Fazio, R, Fujioka, T, Fulgenzi, Ea, Galassi, G, Garcia-Sobrino, T, Garnero, M, Garssen, Mpj, Gijsbers, Cj, Gilchrist, Jm, Goldstein, Jm, Granit, V, Grapperon, A, Gutiérrez, G, Hadden, Rdm, Holbech, Jv, Holt, Jkl, Homedes Pedret, C, Htut, M, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, Hd, Kiers, L, Kieseier, Bc, Kimpinski, K, Kleyweg, Rp, Kokubun, N, Kolb, Na, Kuitwaard, K, Kuwabara, S, Kwan, Jy, Ladha, Ss, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Lucy, St, Lunn, Mpt, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mcdermott, Cj, Meekins, Gd, Miller, Jal, Monges, Ms, Montero, Mcj, Morís de la Tassa, G, Mozzoni, J, Nascimbene, C, Nowak, Rj, Orizaloa Balaguer, P, Osei-Bonsu, M, Lee Pan EB, Pardo, J, Pasnoor, M, Rajabally, Ya, Rinaldi, S, Ritter, C, Roberts, Rc, Rojas-Marcos, I, Rudnicki, Sa, Ruiz, M, Sachs, Gm, Samijn, Jpa, Santoro, L, Schenone, A, Schwindling, L, Sedano Tous MJ, Sekiguchi, Y, Sheikh, Ka, Silvestri, Nj, Sindrup, Sh, Sommer, Cl, Stein, B, Stino, Am, Spyropoulos, A, Srinivasan, J, Suzuki, H, Tankisi, H, Tigner, D, Twydell, Pt, van Damme, P, van der Kooi AJ, van Dijk GW, van der Ree, T, van Koningsveld, R, Varrato, Jd, Vermeij, Fh, Visser, Lh, Vytopil, Mv, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, Pw, Yamagishi, Y, Zhou, L, Zivkovic, S., Doets, A, Verboon, C, van den Berg, B, Harbo, T, Cornblath, D, Willison, H, Islam, Z, Attarian, S, Barroso, F, Bateman, K, Benedetti, L, van den Bergh, P, Casasnovas, C, Cavaletti, G, Chavada, G, Claeys, K, Dardiotis, E, Davidson, A, van Doorn, P, Feasby, T, Galassi, G, Gorson, K, Hartung, H, Hsieh, S, Hughes, R, Illa, I, Islam, B, Kusunoki, S, Kuwabara, S, Lehmann, H, Miller, J, Mohammad, Q, Monges, S, Nobile Orazio, E, Pardo, J, Pereon, Y, Rinaldi, S, Querol, L, Reddel, S, Reisin, R, Shahrizaila, N, Sindrup, S, Waqar, W, Jacobs, B, Neurology, AII - Infectious diseases, AII - Inflammatory diseases, ANS - Neuroinfection & -inflammation, Immunology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (SLuc) Service de neurologie

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, clinical course, Guillain-Barre Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, axonal degeneration, demyelination, outcome, polyradiculoneuropathy, Internal medicine, Severity of illness, medicine, Humans, 030212 general & internal medicine, Young adult, Child, Geographic difference, Aged, Aged, 80 and over, Guillain-Barre syndrome, Polyradiculoneuropathy, Overlap syndrome, Middle Aged, medicine.disease, Regional variation, Child, Preschool, neurology, Settore MED/26 - Neurologia, Female, Neurology (clinical), 030217 neurology & neurosurgery, Cohort study, polyradiculoneuropathy, demyelination, axonal degeneration, clinical course, outcome
Abstract

Guillain-Barré syndrome is a heterogeneous disorder regarding the clinical presentation, electrophysiological subtype and outcome. Previous single country reports indicate that Guillain-Barré syndrome may differ among regions, but no systematic comparative studies have been conducted. Comparative studies are required to identify factors determining disease susceptibility, variation and prognosis, and to improve diagnostic criteria. The International Guillain-Barré Syndrome Outcome Study is a prospective, observational cohort study including all patients within the diagnostic spectrum, aiming to describe the heterogeneity of Guillain-Barré syndrome worldwide. The current study was based on the first 1000 inclusions with a follow-up of at least 1 year and confirmed the variation in clinical presentation, course and outcome between patients. The full clinical spectrum of Guillain-Barré syndrome was observed in patients from all countries participating in the International Guillain-Barré Syndrome Outcome Study, but the frequency of variants differed between regions. We compared three regions based on geography, income and previous reports of Guillain-Barré syndrome subtypes: 'Europe/Americas', 'Asia' (without Bangladesh), and 'Bangladesh'. We excluded 75 (8%) patients because of alternative diagnoses, protocol violations, or missing data. The predominant clinical variant was sensorimotor in Europe/Americas (n = 387/562, 69%) and Asia (n = 27/63, 43%), and pure motor in Bangladesh (n = 74/107, 69%). Miller Fisher syndrome and Miller Fisher-Guillain-Barré overlap syndrome were more common in Asia (n = 14/63, 22%) than in the other two regions (Europe/Americas: n = 64/562, 11%; Bangladesh: n = 1/107, 1%) (P < 0.001). The predominant electrophysiological subtype was demyelinating in all regions (Europe/Americas: n = 312/573, 55%; Asia: n = 29/65, 45%; Bangladesh: n = 38/94, 40%). The axonal subtype occurred more often in Bangladesh (n = 34/94, 36%) than in Europe/Americas (n = 33/573, 6%) and other Asian countries (n = 4/65, 6%) (P < 0.001). In all regions, patients with the axonal subtype were younger, had fewer sensory deficits, and showed a trend towards poorer recovery compared to patients with the demyelinating subtype. The proportion of patients able to walk unaided after 1 year varied between Asia (n = 31/34, 91%), Europe/Americas (n = 334/404, 83%) and Bangladesh (n = 67/97, 69%) (P = 0.003). A similar variation was seen for mortality, being higher in Bangladesh (n = 19/114, 17%) than in Europe/Americas (n = 23/486, 5%) and Asia (n = 1/45, 2%) (P < 0.001). This study showed that factors related to geography have a major influence on clinical phenotype, disease severity, electrophysiological subtype, and outcome of Guillain-Barré syndrome.

Published
2018

17. Heidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob disease

Author

Imbriani, P, Marfia, Ga, Marciani, Mg, Poleggi, A, Pocchiari, M, Puoti, G, Caltagirone, C, Pisani, A, Imbriani, Paola, Marfia, Girolama Alessandra, Marciani, Maria Grazia, Poleggi, Anna, Pocchiari, Maurizio, Puoti, Gianfranco, Caltagirone, Carlo, and Pisani, Antonio

Subjects
Male, Creutzfeldt–Jakob disease, Heidenhain variant, PRNP gene, RT-QuIC, mutation, Middle Aged, Creutzfeldt-Jakob Syndrome, Prion Proteins, nervous system diseases, mental disorders, Humans, Point Mutation, Settore MED/26 - Neurologia, Female, Aged
Abstract

BJECTIVE: To report two members of the same family carrying the valine to isoleucine point mutation of the prion protein gene (PRNP) and presenting with visual symptoms as initial manifestation as in the "Heidenhain variant" of sporadic Creutzfeldt-Jakob disease (CJD). METHODS: Patients underwent neurological examination, electroencephalogram (EEG), brain magnetic resonance images (MRI) and cerebrospinal fluid (CSF) analysis including the Real Time Quaking Induced Conversion (RT-QuIC) test. Disease-specific mutations and polymorphism at codon 129 of the PRNP gene were also studied. RESULTS: Isolated visual symptoms characterized disease onset of both patients followed by progressive neurological signs, dementia and death in 3 (proband) and 9 (his aunt) months. RT-QuIC analysis of CSF samples of both patients revealed the presence of the pathological prion protein and DNA analysis the V210I point mutation of the PRNP and methionine homozygosity at the polymorphic codon 129. CONCLUSIONS: This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia.

Published
2015

18. RANTES correlates with inflammatory activity and synaptic excitability in multiple sclerosis

Author

Mori, F, Nisticò, R, Nicoletti, Cg, Zagaglia, S, Mandolesi, G, Piccinin, S, Martino, Gaetano, Finardi, A, Rossini, Paolo Maria, Marfia, Ga, Furlan, R, Centonze, D., Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Mori, F, Nisticò, R, Nicoletti, Cg, Zagaglia, S, Mandolesi, G, Piccinin, S, Martino, Gaetano, Finardi, A, Rossini, Paolo Maria, Marfia, Ga, Furlan, R, Centonze, D., and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Alterations of synaptic transmission induced by inflammatory activity have been linked to the pathogenic mechanisms of multiple sclerosis (MS). Regulated upon activation, normal T-cell expressed, and secreted (RANTES) is a pro-inflammatory chemokine involved in MS pathophysiology, potentially able to regulate glutamate release and plasticity in MS brains, with relevant consequences on the clinical manifestations of the disease.

Published
2016

28. Validation of DN4 as a screening tool for neuropathic pain in painful diabetic polyneuropathy

Author

Spallone, V, Morganti, R, D'Amato, C, Greco, C, Cacciotti, L, and Marfia, Ga

Subjects
neuropathic pain, Male, pain, diabetic neuropathy, painful diabetic neuropathy, DN4, diagnosis, screening, diabetes, Reproducibility of Results, Middle Aged, Sensitivity and Specificity, Vibration, Settore MED/13 - Endocrinologia, Cross-Sectional Studies, Diabetic Neuropathies, Italy, Surveys and Questionnaires, Humans, Mass Screening, Neuralgia, Female, Pain Measurement
Abstract

DN4 (Douleur Neuropathique en 4 Questions) is a screening tool for neuropathic pain consisting of interview questions (DN4-interview) and physical tests. It has not formally been validated in diabetes. We evaluated the validity and diagnostic accuracy of DN4 and DN4-interview in identifying neuropathic pain of painful diabetic polyneuropathy.In 158 patients with diabetes, the presence of diabetic polyneuropathy and neuropathic pain was assessed using scoring system for symptoms and signs, quantitative sensory testing, nerve conduction studies, pain history, numerical rating scale, and Short-Form McGill Pain Questionnaire. Painful diabetic polyneuropathy was defined as the presence of diabetic polyneuropathy plus chronic neuropathic pain in the same area as neuropathic deficits. A blinded investigator performed DN4.The DN4 score was significantly related to all the neurological and electrophysiological measurements and to Short-Form McGill Pain Questionnaire (ρ = 0.58, P0.0001). DN4 and DN4-interview scores showed a high diagnostic accuracy for painful diabetic polyneuropathy with areas under the receiver operating characteristic curve of 0.94 and 0.93, respectively. At the cut-off of 4, DN4 displayed sensitivity of 80%, specificity of 92%, positive predictive value (PPV) of 82%, negative predictive value (NPV) of 91%, and likelihood ratio for a positive result (LR(+) ) of 9.6. At the cut-off of 3, DN4-interview showed sensitivity and specificity of 84%, PPV of 71%, NPV of 92%, and LR(+) of 5.3.This is the first validation study of DN4 for painful diabetic polyneuropathy, which supports its usefulness as both a screening tool for neuropathic pain in diabetes and a reliable component of the diagnostic work up for painful diabetic polyneuropathy.

Published
2011

30. Novel HLA II associations in myasthenia gravis

Author

Massa, R, Andreani, M, Terracciano, C, Troiano, M, Marfia, Ga, Guagnano, A, Pompeo, E, Piantadosi, C, Testa, G, and Testi, M

Subjects
Settore MED/26 - Neurologia
Published
2011

33. Percutaneous tibial nerve stimulation produces effects on brain activity: study on the modifications of the long latency somatosensory evoked potentials

Author

FINAZZI AGRO', E, Rocchi, C, Pachatz, C, Petta, F, Spera, E, Mori, F, Sciobica, F, and Marfia, Ga

Subjects
Adult, Data Interpretation, Urinary Bladder, Overactive, Urinary Bladder, Long-Term Potentiation, Neural Conduction, Somatosensory, Brain, Electric Stimulation Therapy, Statistical, Middle Aged, Settore MED/24 - Urologia, Data Interpretation, Statistical, Evoked Potentials, Somatosensory, Nerve Net, Synapses, Female, Humans, Tibial Nerve, Settore MED/26 - Neurologia, Evoked Potentials, Overactive
Abstract

Long-latency somatosensory evoked potentials (LL-SEP) provide information on the function of somatosensory cortical structures. Percutaneous tibial nerve stimulation (PTNS) is indicated in the treatment of lower urinary tract dysfunction. Aim of this study was to evaluate LL-SEP in patients with overactive bladder syndrome (OAB) treated by means of PTNS.Sixteen female patients with a diagnosis of pharmacoresistant OAB underwent PTNS while eight female patients with the same diagnosis underwent sham stimulation. LL-SEP were performed at baseline and at the end of PTNS or sham stimulation. Peak latency and peak to peak amplitude of P80, P100, and P200 waves were measured.Mean latency of P80, P100, and P200 and mean amplitude of P200 did not show any significant change after both stimulation. Mean amplitude of P80 and P100 waves increased significantly after PTNS while it did not vary after sham stimulation.The P80 and P100 amplitude increase might reflect long-term modifications in synaptic efficiency through the somatosensory pathway. The plastic reorganization of cortical network triggered by peripheral neuromodulation can be hypothesized as a mechanism of action of PTNS. Further studies are needed to correlate LL-SEP modifications after PTNS with the success of the treatment.

Published
2008

34. Italian multicentre study of peroneal mononeuropathy: multiperspective follow-up

Author

Aprile, I, Tonali, P, Caliandro, P, Pazzaglia, C, Foschini, M, Di Stasio, E, Mondelli, M, Padua, L, Italian, C, other entrapments Study Group, Bogliun, G, Colleluori, A, Giannini, F, Insola, A, Marfia, Ga, Morini, A, Murasecco, D, and Romano, M

Subjects
Adult, Male, medicine.medical_specialty, Neurology, medicine.medical_treatment, Natural history, Neural Conduction, Severity of Illness Index, Age Factors, Sex Factors, Humans, Prognosis, Disease Progression, Recovery of Function, Quality of Life, Aged, Mononeuropathies, Italy, Peroneal Nerve, Muscle Strength, Prospective Studies, Disability Evaluation, Follow-Up Studies, Middle Aged, Female, Dermatology, Mononeuropathy, Multicentre, Physical medicine and rehabilitation, Quality of life, Severity of illness, Medicine, Peroneal mononeuropathy, Follow-up, Multicentre, Natural history, Outcome, Peroneal mononeuropathy, Prospective cohort study, Outcome, Neuroradiology, Rehabilitation, business.industry, Follow-up, General Medicine, Psychiatry and Mental health, Physical therapy, Settore MED/26 - Neurologia, Neurology (clinical), Neurosurgery, business
Abstract

The main objective of this study is to assess the course of peroneal mononeuropathy (PM). The study design includes Clinical and Prospective study. The setting involves neurophysiological Service. From November 2002 to January 2004, we enroled 69 consecutive patients and prospectively followed up 49 patients with multiple measurements. Comparison was made between follow-up and baseline values, and baseline factors were used to predict the PM evolution in multiple regression analysis. At follow-up, we observed a significant improvement of all clinical, neurophysiological and disability measurements, and physical aspects of quality of life (QoL). Greater muscle strength of tibialis anterior and higher conduction velocity of peroneal nerve at baseline were seen to be positive prognostic factors. A better evolution of mental aspects of QoL was observed in the subacute group and in younger patients, while a better physical evolution in QoL was observed in women. Rehabilitation is ambiguously associated with a better Deambulation Index but lower ratings in mental aspects of QoL. In conclusion, PM shows a positive spontaneous course and rehabilitation seems to help the recovery of deambulation. Further studies on the effects of conventional rehabilitation are needed.

Published
2008

40. Electrophysiological recordings and calcium measurements in striatal large aspiny interneurons in response to combined O2/glucose deprivation

Author

Pisani, A, Calabresi, Paolo, Centonze, D, Marfia, Ga, and Bernardi, G.

Subjects
Male, Wistar, Electrophysiology, Glucose, Corpus Striatum, Potassium Channel Blockers, Rats, Wistar, Calcium Channels, Rats, Chelating Agents, Egtazic Acid, Animals, Anoxia, Interneurons, Calcium, Tetrodotoxin, Excitatory Amino Acid Antagonists, Settore MED/26 - Neurologia
Published
1999

42. An in vitro electrophysiological study on the effects of phenytoin, lamotrigine and gabapentin on striatal neurons

Author

Calabresi, P, Centonze, D, Marfia, Ga, Pisani, A, and Bernardi, G

Subjects
Male, Cerebral Cortex, Neurons, Cyclohexanecarboxylic Acids, Triazines, Wistar, Glutamic Acid, Action Potentials, Excitatory Postsynaptic Potentials, Corpus Striatum, Electric Stimulation, Rats, Membrane Potentials, Electrophysiology, Dose-Response Relationship, Phenytoin, Acetic Acids, Animals, Anticonvulsants, Settore MED/26 - Neurologia, Amines, Rats, Wistar, Dose-Response Relationship, Drug, gamma-Aminobutyric Acid, Drug
Published
1999

48. The autonomic balance predicts cardiac responses after the first dose of fingolimod.

Author

Rossi, S, Rocchi, C, Studer, V, Motta, C, Lauretti, B, Germani, G, Macchiarulo, G, Marfia, GA, and Centonze, D

Subjects
MULTIPLE sclerosis, HEART function tests, BRADYCARDIA, FINGOLIMOD, STATISTICAL correlation, PATIENTS
Abstract

The article presents a study which explores the benefit of using autonomic balance as predictive marker in cardiac responses in patients with multiple sclerosis (MS) prescribed with fingolimod. Correlations between the measurement of parasympathetic function and fingolimod-induced bradycardia is evaluated. Mentioned is the contribution of autonomic control assessment in analyzing cardiac functions.

Published
2015
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50. Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease)

Author

Rocchi C, Greco V, Urbani A, Di Giorgio A, Priori M, Massa R, Bernardi G, and Marfia GA

Abstract

Introduction: Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic cardiovascular function in 5 SBMA patients. Methods: Five quantitative autonomic function tests (AFTs) were performed in 5 SBMA patients. Plasma noradrenaline (NA) concentration in patients and in 5 healthy subjects was also measured. Results: AFTs were abnormal in 4 of the 5 patients, and plasma NA concentration was significantly reduced in patients with respect to controls. Conclusion: The impairment of cardiovascular responses to AFTs in addition to reduced plasma NA concentration observed in our patients suggests subclinical involvement of the ANS in Kennedy disease. Muscle Nerve, 2011. [ABSTRACT FROM AUTHOR]

Published
2011
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