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151. International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome

Author

Jacobs, B.C. (Bart C.), Berg, B. (Bianca) van den, Verboon, C. (Christine), Chavada, G. (Govindsinh), Cornblath, D.R. (David), Gorson, K.C. (Kenneth), Harbo, T. (Thomas), Hartung, H.P., Hughes, R.A.C. (Richard A. C.), Kusunoki, S. (Susumu), Doorn, P.A. (Pieter) van, Willison, H.J. (Hugh J.), Jacobs, B.C. (Bart), Hughes, R.A.C. (Richard), Cornblath, D.R., Gorson, K.C., Kusunoki, S., Willison, H.J. (Hugh), van Woerkom, M., van den Berg, B., Verboon, C., Roodbol, J. (J.), Reisin, R. (R.), Reddel, S.W., Islam, Z. (Zhahirul), Islam, B., Mohammad, Q.D. (Quazi), Bergh, P.Y.K. (Paul) van den, Feasby, T.E., Wang, Y.Z., Harbo, T., Péréon, Y., Lehmann, H.C., Dardiotis, E., Nobile-Orazio, E. (Eduarde), Shahrizaila, N., Jacobs, B.C., Bateman, K., Illa, I. (Isabel), Querol, L. (Luis), Hsieh, S.T., Willison, H.J., Chavada, G., Davidson, A., Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A. (Umesh), Barroso, F.A., Benedetti, L., Beronio, A., Bianco, M., Binda, D., Briani, C., Bürmann, J., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Brannagan, T.H., Busby, M., Butterworth, S., Campagnolo, M., Casasnovas, C., Cavaletti, G., Chao, C.S., Chen, S., Chetty, S., Claeys, T. (Tine), Cohen, J.A., Conti, M.E., Cosgrove, J.S., Dalakas, M.C. (Marinos), Dimachkie, M.M., Dillmann, U., Domínguez González, C., Doppler, K., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F. (Filip), Faber, C.G., Fazio, R. (R.), Fokke, M. (Maureen), Fujioka, T., Fulgenzi, E. (E.), Galassi, G., Garcia, T., Garnero, M., Garssen, M.P.J. (Marcel), Gijsbers, C.J., Gilchrist, J.M., Gilhuis, J. (Job), Goldstein, J.M., Goyal, N., Granit, V., Grapperon, A., Gutiérrez Gutiérrez, G., Gutmann, L., Hadden, R.D.M. (Rob), Holbech, J.V., Holt, J.K.L., Homedes Pedret, C., Htut, M., Jellema, K., Jericó Pascual, I., Kaida, K.I. (Ken Ichi), Karafiath, S., Katzberg, H. (Hans), Kiers, H.A.L. (Henk), Kieseier, B.C. (Bernd), Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., Kuitwaard, K. (Krista), Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Ledingham, D., Léon Cejas, L., Luciano, C.A., Lucy, S.T., Lunn, M.P.T. (Michael P. T.), Magot, A., Manji, H., Marchesoni, A., Marfia, G.A.M., Márquez Infante, C., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J., Monges, M.S., Montero, M.C.J., Morís de la Tassa, G., Nascimbene, C., Neumann, C., Nowak, R.J., Orizaola Balaguer, P., Osei-Bonsu, M., Pan, E.B.L., Pardo Fernandez, J., Pasnoor, M., Pulley, M.T., Rajabally, Y.A., Rinaldi, S. (Sabina), Ritter, C., Roberts, R.C., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samijn, J.P. (Johnny), Santoro, L., Saperstein, D.S., Savransky, A., Schneider, H., Schenone, A. (Andrea), Sedano Tous, M.J., Sekiguchi, Y., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C., Stein, B., Stino, A.M., Spyropoulos, A., Srinivasan, J., Suzuki, H., Taylor, S.W., Tankisi, H., Tigner, D., Twydell, P.T., Valzania, F., van Damme, P., Kooj, A.J. (Anneke), Dijk, G.W. (Gert) van, van der Ree, T., Koningsveld, R. (Rinske) van, Varrato, J.D., Vermeij, F.H. (Frederique), Verschuuren, J.J. (Jan), Visser, L.H. (Leendert), Vytopil, M.V., Waheed, W., Wilken, M., Wilkerson, C., Wirtz, P.W., Yamagishi, Y., Yiu, E.M., Zhou, L., Zivkovic, S.A. (Sasa), Jacobs, B.C. (Bart C.), Berg, B. (Bianca) van den, Verboon, C. (Christine), Chavada, G. (Govindsinh), Cornblath, D.R. (David), Gorson, K.C. (Kenneth), Harbo, T. (Thomas), Hartung, H.P., Hughes, R.A.C. (Richard A. C.), Kusunoki, S. (Susumu), Doorn, P.A. (Pieter) van, Willison, H.J. (Hugh J.), Jacobs, B.C. (Bart), Hughes, R.A.C. (Richard), Cornblath, D.R., Gorson, K.C., Kusunoki, S., Willison, H.J. (Hugh), van Woerkom, M., van den Berg, B., Verboon, C., Roodbol, J. (J.), Reisin, R. (R.), Reddel, S.W., Islam, Z. (Zhahirul), Islam, B., Mohammad, Q.D. (Quazi), Bergh, P.Y.K. (Paul) van den, Feasby, T.E., Wang, Y.Z., Harbo, T., Péréon, Y., Lehmann, H.C., Dardiotis, E., Nobile-Orazio, E. (Eduarde), Shahrizaila, N., Jacobs, B.C., Bateman, K., Illa, I. (Isabel), Querol, L. (Luis), Hsieh, S.T., Willison, H.J., Chavada, G., Davidson, A., Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A. (Umesh), Barroso, F.A., Benedetti, L., Beronio, A., Bianco, M., Binda, D., Briani, C., Bürmann, J., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Brannagan, T.H., Busby, M., Butterworth, S., Campagnolo, M., Casasnovas, C., Cavaletti, G., Chao, C.S., Chen, S., Chetty, S., Claeys, T. (Tine), Cohen, J.A., Conti, M.E., Cosgrove, J.S., Dalakas, M.C. (Marinos), Dimachkie, M.M., Dillmann, U., Domínguez González, C., Doppler, K., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F. (Filip), Faber, C.G., Fazio, R. (R.), Fokke, M. (Maureen), Fujioka, T., Fulgenzi, E. (E.), Galassi, G., Garcia, T., Garnero, M., Garssen, M.P.J. (Marcel), Gijsbers, C.J., Gilchrist, J.M., Gilhuis, J. (Job), Goldstein, J.M., Goyal, N., Granit, V., Grapperon, A., Gutiérrez Gutiérrez, G., Gutmann, L., Hadden, R.D.M. (Rob), Holbech, J.V., Holt, J.K.L., Homedes Pedret, C., Htut, M., Jellema, K., Jericó Pascual, I., Kaida, K.I. (Ken Ichi), Karafiath, S., Katzberg, H. (Hans), Kiers, H.A.L. (Henk), Kieseier, B.C. (Bernd), Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., Kuitwaard, K. (Krista), Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Ledingham, D., Léon Cejas, L., Luciano, C.A., Lucy, S.T., Lunn, M.P.T. (Michael P. T.), Magot, A., Manji, H., Marchesoni, A., Marfia, G.A.M., Márquez Infante, C., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J., Monges, M.S., Montero, M.C.J., Morís de la Tassa, G., Nascimbene, C., Neumann, C., Nowak, R.J., Orizaola Balaguer, P., Osei-Bonsu, M., Pan, E.B.L., Pardo Fernandez, J., Pasnoor, M., Pulley, M.T., Rajabally, Y.A., Rinaldi, S. (Sabina), Ritter, C., Roberts, R.C., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samijn, J.P. (Johnny), Santoro, L., Saperstein, D.S., Savransky, A., Schneider, H., Schenone, A. (Andrea), Sedano Tous, M.J., Sekiguchi, Y., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C., Stein, B., Stino, A.M., Spyropoulos, A., Srinivasan, J., Suzuki, H., Taylor, S.W., Tankisi, H., Tigner, D., Twydell, P.T., Valzania, F., van Damme, P., Kooj, A.J. (Anneke), Dijk, G.W. (Gert) van, van der Ree, T., Koningsveld, R. (Rinske) van, Varrato, J.D., Vermeij, F.H. (Frederique), Verschuuren, J.J. (Jan), Visser, L.H. (Leendert), Vytopil, M.V., Waheed, W., Wilken, M., Wilkerson, C., Wirtz, P.W., Yamagishi, Y., Yiu, E.M., Zhou, L., and Zivkovic, S.A. (Sasa)

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
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152. INTERNATIONAL GUILLAIN-BARRE SYNDROME OUTCOME STUDY (IGOS): DESCRIPTION OF THE FIRST 1000 PATIENTS

Author

van den Berg, Bu, Verboon, C., Doets, A., Chavada, G., Davidson, A., Willison, H. J., Harbo, T., Gorson, K. C., Hartung, H. P., Lehmann, H. C., Kusunoki, S., Querol, L., Illa, I., Nobile-Orazio, E., Reisin, R. C., Reddel, S. W., Islam, Z., Islam, B., Mohammad, Deen Q., Van den Bergh, P., Feasby, T. E., Pereon, Y., Shahrizaila, N., Hsieh, S. T., Bateman, K., Dardiotis, E., Wang, Y., van Doorn, P. A., Hughes, R. A. C., Cornblath, D. R., Jacobs, B. C., van den Berg, Bu, Verboon, C., Doets, A., Chavada, G., Davidson, A., Willison, H. J., Harbo, T., Gorson, K. C., Hartung, H. P., Lehmann, H. C., Kusunoki, S., Querol, L., Illa, I., Nobile-Orazio, E., Reisin, R. C., Reddel, S. W., Islam, Z., Islam, B., Mohammad, Deen Q., Van den Bergh, P., Feasby, T. E., Pereon, Y., Shahrizaila, N., Hsieh, S. T., Bateman, K., Dardiotis, E., Wang, Y., van Doorn, P. A., Hughes, R. A. C., Cornblath, D. R., and Jacobs, B. C.

Published
2017

153. International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome

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, 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, Bã1⁄4rmann, 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, JericÃ3 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, Zivkovic, S., BINDA, DAVIDE, CAVALETTI, GUIDO ANGELO, 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, Bã1⁄4rmann, 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, JericÃ3 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, Zivkovic, S., BINDA, DAVIDE, and CAVALETTI, GUIDO ANGELO

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

154. Reporting quality of randomized-controlled trials in multiple sclerosis from 2000 to 2015, based on CONSORT statement

Author

Rikos, D. Dardiotis, E. Tsivgoulis, G. Zintzaras, E. Hadjigeorgiou, G.M.

Abstract

Background Randomized controlled trials (RCTs) are the best tool to evaluate the effectiveness of clinical interventions. The CONSORT (Consolidated Standards of Reporting Trials) statement is an evidence-based approach to improve the quality of RCTs reporting. Objective To evaluate the reporting quality of published RCTs concerning multiple sclerosis from 2000 to 2015 according to a checklist based on the CONSORT statement. Methods Electronic databases were searched for English-language RCTs involving patients with multiple sclerosis (MS). Trials were considered eligible when participants were randomly assigned to at least two medicinal treatment arms and included patients with MS. Quality of reporting was assessed using a 39–item questionnaire based on the CONSORT checklist. Articles were grouped in three 5-year periods and comparisons were made using descriptive statistics. Results and conclusion The search identified 102 eligible articles for analysis. 20 of the 38 items of the checklist (52.6%) were addressed in 75% or more of the studies. Reporting of more than 75% of CONSORT items (>75% CONSORT compliance) was increased during the three five-year time periods from 2000 to 2015 (p

Published
2016

155. The efficacy of Natalizumab versus Fingolimod for patients with relapsing-remitting multiple sclerosis: A systematic review, indirect evidence from randomized placebo-controlled trials and meta-analysis of observational head-to-head trials

Author

Tsivgoulis, G. Katsanos, A.H. Mavridis, D. Grigoriadis, N. Dardiotis, E. Heliopoulos, I. Papathanasopoulos, P. Karapanayiotides, T. Kilidireas, C. Hadjigeorgiou, G.M. Voumvourakis, K. Gravanis, A. Papadimitriou, A. Rompos, A. Mouzaki, A. Kylintireas, C. Voumvourakis, C. Karagogeos, D. Hadjigeorgiou, G. Kollias, G. Helliopoulos, I. Probert, L. Ioannidis, P. Pelidou, S.-E. Tzartos, S. Karapanagiotides, T. Panoutsakopoulou, V. HELANI (Hellenic Academy of Neuroimmunology)

Abstract

Background: Although Fingolimod (FGD) and Natalizumab (NTZ) appear to be effective in relapsing-remitting multiple sclerosis (RRMS), they have never been directly compared in a randomized clinical trial (RCT). Methods and Findings: We evaluated the comparative efficacy of FGD vs. NTZ using a meta-analytical approach. Data from placebo-controlled RCTs was used for indirect comparisons and observational data was utilized for head-to-head comparisons. We identified 3 RCTs (2498 patients) and 5 observational studies (2576 patients). NTZ was associated with a greater reduction in the 2-year annualized relapse rate (ARR; SMDindirect = -0.24;95% CI: from -0.44 to -0.04; p = 0.005) and with the probability of no disease activity at 2 years (ORindirect:1.82, 95% CI: from 1.05 to 3.15) compared to FGD, while no differences between the two therapies were found in the proportion of patients who remained relapse-free (ORindirect= 1.20;95% CI: from 0.84 to 1.71) and those with disability progression (ORindirect = 0.76;95% CI: from 0.48 to 1.21) at 2 years. In the analysis of observational data, we found no significant differences between NTZ and FGD in the 2-year ARR (SMD = -0.05; 95% CI: from -0.26 to 0.16), and 2-year disability progression (OR:1.08;95% CI: from 0.77 to 1.52). However, NTZ-treated patients were more likely to remain relapse-free at 2-years compared to FGD (OR: 2.19;95% CI: from 1.15 to 4.18; p = z0.020). Conclusions: Indirect analyses of RCT data and head-to-head comparisons of observational findings indicate that NTZ may be more effective than FGD in terms of disease activity reduction in patients with RRMS. However, head-to-head RCTs are required to independently confirm this preliminary observation. © 2016 Tsivgoulis et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Published
2016

156. Deciphering the role of DNA methylation in multiple sclerosis: emerging issues

Author

Sokratous, M. Dardiotis, E. Tsouris, Z. Bellou, E. Michalopoulou, A. Siokas, V. Arseniou, S. Stamati, T. Tsivgoulis, G. Bogdanos, D. Hadjigeorgiou, G.M.

Abstract

Multiple sclerosis (MS) is an autoimmune inflammatory and neurodegenerative disease of the central nervous system that involves several not yet fully elucidated pathophysiologic mechanisms. There is increasing evidence that epigenetic modifications at level of DNA bases, histones, and micro-RNAs may confer risk for MS. DNA methylation seems to have a prominent role in the epigenetics of MS, as aberrant methylation in the promoter regions across genome may underlie several processes involved in the initiation and development of MS. In the present review, we discuss current understanding regarding the role of DNA methylation in MS, possible therapeutic implications and future emerging issues. © 2016, The Author(s).

Published
2016

159. 37th International Symposium on Intensive Care and Emergency Medicine (part 2 of 3)

Author

Rob, D., primary, Špunda, R., additional, Lindner, J., additional, Šmalcová, J., additional, Šmíd, O., additional, Kovárník, T., additional, Linhart, A., additional, Bìlohlávek, J., additional, Marinoni, M. M., additional, Cianchi, G., additional, Trapani, S., additional, Migliaccio, M. L., additional, Gucci, L., additional, Bonizzoli, M., additional, Cramaro, A., additional, Cozzolino, M., additional, Valente, S., additional, Peris, A., additional, Grins, E., additional, Kort, E., additional, Weiland, M., additional, Shresta, N. Manandhar, additional, Davidson, P., additional, Algotsson, L., additional, Fitch, S., additional, Marco, G., additional, Sturgill, J., additional, Lee, S., additional, Dickinson, M., additional, Boeve, T., additional, Khaghani, A., additional, Wilton, P., additional, Jovinge, S., additional, Ahmad, A. N., additional, Loveridge, R., additional, Vlachos, S., additional, Patel, S., additional, Gelandt, E., additional, Morgan, L., additional, Butt, S., additional, Whitehorne, M., additional, Kakar, V., additional, Park, C., additional, Hayes, M., additional, Willars, C., additional, Hurst, T., additional, Best, T., additional, Vercueil, A., additional, Auzinger, G., additional, Adibelli, B., additional, Akovali, N., additional, Torgay, A., additional, Zeyneloglu, P., additional, Pirat, A., additional, Kayhan, Z., additional, Schmidbauer, S. S., additional, Herlitz, J., additional, Karlsson, T., additional, Friberg, H., additional, Knafelj, R., additional, Radsel, P., additional, Duprez, F., additional, Bonus, T., additional, Cuvelier, G., additional, Mashayekhi, S., additional, Maka, M., additional, Ollieuz, S., additional, Reychler, G., additional, Mosaddegh, R., additional, Abbasi, S., additional, Talaee, S., additional, Zotzmann, V. Z., additional, Staudacher, D. S., additional, Wengenmayer, T. W., additional, Dürschmied, D. D., additional, Bode, C. B., additional, Nelskylä, A., additional, Nurmi, J., additional, Jousi, M., additional, Schramko, A., additional, Mervaala, E., additional, Ristagno, G., additional, Skrifvars, M., additional, Ozsoy, G., additional, Kendirli, T., additional, Azapagasi, E., additional, Perk, O., additional, Gadirova, U., additional, Ozcinar, E., additional, Cakici, M., additional, Baran, C., additional, Durdu, S., additional, Uysalel, A., additional, Dogan, M., additional, Ramoglu, M., additional, Ucar, T., additional, Tutar, E., additional, Atalay, S., additional, Akar, R., additional, Kamps, M., additional, Leeuwerink, G., additional, Hofmeijer, J., additional, Hoiting, O., additional, Van der Hoeven, J., additional, Hoedemaekers, C., additional, Konkayev, A., additional, Kuklin, V., additional, Kondratyev, T., additional, Konkayeva, M., additional, Akhatov, N., additional, Sovershaev, M., additional, Tveita, T., additional, Dahl, V., additional, Wihersaari, L., additional, Skrifvars, M. B., additional, Bendel, S., additional, Kaukonen, K. M., additional, Vaahersalo, J., additional, Romppanen, J., additional, Pettilä, V., additional, Reinikainen, M., additional, Lybeck, A., additional, Cronberg, T., additional, Nielsen, N., additional, Rauber, M., additional, Steblovnik, K., additional, Jazbec, A., additional, Noc, M., additional, Kalasbail, P., additional, Garrett, F., additional, Kulstad, E., additional, Bergström, D. J., additional, Olsson, H. R., additional, Schmidbauer, S., additional, Mandel, I., additional, Mikheev, S., additional, Podoxenov, Y., additional, Suhodolo, I., additional, Podoxenov, A., additional, Svirko, J., additional, Sementsov, A., additional, Maslov, L., additional, Shipulin, V., additional, Vammen, L. V., additional, Rahbek, S. R., additional, Secher, N. S., additional, Povlsen, J. P., additional, Jessen, N. J., additional, Løfgren, B. L., additional, Granfeldt, A. G., additional, Grossestreuer, A., additional, Perman, S., additional, Patel, P., additional, Ganley, S., additional, Portmann, J., additional, Cocchi, M., additional, Donnino, M., additional, Nassar, Y., additional, Fathy, S., additional, Gaber, A., additional, Mokhtar, S., additional, Chia, Y. C., additional, Lewis-Cuthbertson, R., additional, Mustafa, K., additional, Sabra, A., additional, Evans, A., additional, Bennett, P., additional, Eertmans, W., additional, Genbrugge, C., additional, Boer, W., additional, Dens, J., additional, De Deyne, C., additional, Jans, F., additional, Skorko, A., additional, Thomas, M., additional, Casadio, M., additional, Coppo, A., additional, Vargiolu, A., additional, Villa, J., additional, Rota, M., additional, Avalli, L., additional, Citerio, G., additional, Moon, J. B., additional, Cho, J. H., additional, Park, C. W., additional, Ohk, T. G., additional, Shin, M. C., additional, Won, M. H., additional, Papamichalis, P., additional, Zisopoulou, V., additional, Dardiotis, E., additional, Karagiannis, S., additional, Papadopoulos, D., additional, Zafeiridis, T., additional, Babalis, D., additional, Skoura, A., additional, Staikos, I., additional, Komnos, A., additional, Passos, S. Silva, additional, Maeda, F., additional, Souza, L. Silva, additional, Filho, A. Amato, additional, Granjeia, T. Araújo Guerra, additional, Schweller, M., additional, Franci, D., additional, De Carvalho Filho, M., additional, Santos, T. Martins, additional, De Azevedo, P., additional, Wall, R., additional, Welters, I., additional, Tansuwannarat, P., additional, Sanguanwit, P., additional, Langer, T., additional, Carbonara, M., additional, Caccioppola, A., additional, Fusarini, C. Ferraris, additional, Carlesso, E., additional, Paradiso, E., additional, Battistini, M., additional, Cattaneo, E., additional, Zadek, F., additional, Maiavacca, R., additional, Stocchetti, N., additional, Pesenti, A., additional, Ramos, A., additional, Acharta, F., additional, Toledo, J., additional, Perezlindo, M., additional, Lovesio, L., additional, Dogliotti, A., additional, Lovesio, C., additional, Schroten, N., additional, Van der Veen, B., additional, De Vries, M. C., additional, Veenstra, J., additional, Abulhasan, Y. B., additional, Rachel, S., additional, Châtillon-Angle, M., additional, Alabdulraheem, N., additional, Schiller, I., additional, Dendukuri, N., additional, Angle, M., additional, Frenette, C., additional, Lahiri, S., additional, Schlick, K., additional, Mayer, S. A., additional, Lyden, P., additional, Akatsuka, M., additional, Arakawa, J., additional, Yamakage, M., additional, Rubio, J., additional, Mateo-Sidron, J. A. Rubio, additional, Sierra, R., additional, Celaya, M., additional, Benitez, L., additional, Alvarez-Ossorio, S., additional, Fernandez, A., additional, Gonzalez, O., additional, Engquist, H., additional, Rostami, E., additional, Enblad, P., additional, Canullo, L., additional, Nallino, J., additional, Perreault, M., additional, Talic, J., additional, Frenette, A. J., additional, Burry, L., additional, Bernard, F., additional, Williamson, D. R., additional, Adukauskiene, D., additional, Cyziute, J., additional, Adukauskaite, A., additional, Malciene, L., additional, Luca, L., additional, Rogobete, A., additional, Bedreag, O., additional, Papurica, M., additional, Sarandan, M., additional, Cradigati, C., additional, Popovici, S., additional, Vernic, C., additional, Sandesc, D., additional, Avakov, V., additional, Shakhova, I., additional, Trimmel, H., additional, Majdan, M., additional, Herzer, G. H., additional, Sokoloff, C. S., additional, Albert, M., additional, Williamson, D., additional, Odier, C., additional, Giguère, J., additional, Charbonney, E., additional, Husti, Z., additional, Kaptás, T., additional, Fülep, Z., additional, Gaál, Z., additional, Tusa, M., additional, Donnelly, J., additional, Aries, M., additional, Czosnyka, M., additional, Robba, C., additional, Liu, M., additional, Ercole, A., additional, Menon, D., additional, Hutchinson, P., additional, Smielewski, P., additional, López, R., additional, Graf, J., additional, Montes, J. M., additional, Kenawi, M., additional, Kandil, A., additional, Husein, K., additional, Samir, A., additional, Heijneman, J., additional, Huijben, J., additional, Abid-Ali, F., additional, Stolk, M., additional, Van Bommel, J., additional, Lingsma, H., additional, Van der Jagt, M., additional, Cihlar, R. C., additional, Mancino, G., additional, Bertini, P., additional, Forfori, F., additional, Guarracino, F., additional, Pavelescu, D., additional, Grintescu, I., additional, Mirea, L., additional, Alamri, S., additional, Tharwat, M., additional, Kono, N., additional, Okamoto, H., additional, Uchino, H., additional, Ikegami, T., additional, Fukuoka, T., additional, Simoes, M., additional, Trigo, E., additional, Coutinho, P., additional, Pimentel, J., additional, Franci, A., additional, Basagni, D., additional, Boddi, M., additional, Anichini, V., additional, Cecchi, A., additional, Markopoulou, D., additional, Venetsanou, K., additional, Papanikolaou, I., additional, Barkouri, T., additional, Chroni, D., additional, Alamanos, I., additional, Cingolani, E., additional, Bocci, M. G., additional, Pisapia, L., additional, Tersali, A., additional, Cutuli, S. L., additional, Fiore, V., additional, Palma, A., additional, Nardi, G., additional, Antonelli, M., additional, Coke, R., additional, Kwong, A., additional, Dwivedi, D. J., additional, Xu, M., additional, McDonald, E., additional, Marshall, J. C., additional, Fox-Robichaud, A. E., additional, Liaw, P. C., additional, Kuchynska, I., additional, Malysh, I. R., additional, Zgrzheblovska, L. V., additional, Mestdagh, L., additional, Verhoeven, E. F., additional, Hubloue, I., additional, Ruel-laliberte, J., additional, Zarychanski, R., additional, Lauzier, F., additional, Bonaventure, P. Lessard, additional, Green, R., additional, Griesdale, D., additional, Fowler, R., additional, Kramer, A., additional, Zygun, D., additional, Walsh, T., additional, Stanworth, S., additional, Léger, C., additional, Turgeon, A. F., additional, Baron, D. M., additional, Baron-Stefaniak, J., additional, Leitner, G. C., additional, Ullrich, R., additional, Tarabrin, O., additional, Mazurenko, A., additional, Potapchuk, Y., additional, Sazhyn, D., additional, Tarabrin, P., additional, Pérez, A. González, additional, Silva, J., additional, Artemenko, V., additional, Bugaev, A., additional, Tokar, I., additional, Konashevskaya, S., additional, Kolesnikova, I. M., additional, Roitman, E. V., additional, Kiss, T. Rengeiné, additional, Máthé, Z., additional, Piros, L., additional, Dinya, E., additional, Tihanyi, E., additional, Smudla, A., additional, Fazakas, J., additional, Ubbink, R., additional, Boekhorst te, P., additional, Mik, E., additional, Caneva, L., additional, Ticozzelli, G., additional, Pirrelli, S., additional, Passador, D., additional, Riccardi, F., additional, Ferrari, F., additional, Roldi, E. M., additional, Di Matteo, M., additional, Bianchi, I., additional, Iotti, G. A., additional, Zurauskaite, G., additional, Voegeli, A., additional, Meier, M., additional, Koch, D., additional, Haubitz, S., additional, Kutz, A., additional, Bargetzi, M., additional, Mueller, B., additional, Schuetz, P., additional, Von Meijenfeldt, G., additional, Van der Laan, M., additional, Zeebregts, C., additional, Christopher, K. B., additional, Vernikos, P., additional, Melissopoulou, T., additional, Kanellopoulou, G., additional, Panoutsopoulou, M., additional, Xanthis, D., additional, Kolovou, K., additional, Kypraiou, T., additional, Floros, J., additional, Broady, H., additional, Pritchett, C., additional, Marshman, M., additional, Jannaway, N., additional, Ralph, C., additional, Lehane, C. L., additional, Keyl, C. K., additional, Zimmer, E. Z., additional, Trenk, D. T., additional, Ducloy-Bouthors, A. S., additional, Jonard, M. J., additional, Fourrier, F., additional, Piza, F., additional, Correa, T., additional, Marra, A., additional, Guerra, J., additional, Rodrigues, R., additional, Vilarinho, A., additional, Aranda, V., additional, Shiramizo, S., additional, Lima, M. R., additional, Kallas, E., additional, Cavalcanti, A. B., additional, Donoso, M., additional, Vargas, P., additional, McCartney, J., additional, Ramsay, S., additional, McDowall, K., additional, Novitzky-Basso, I., additional, Wright, C., additional, Medic, M Grgic, additional, Bielen, L, additional, Radonic, V, additional, Zlopasa, O, additional, Vrdoljak, N Gubarev, additional, Gasparovic, V, additional, Radonic, R, additional, Narváez, G., additional, Cabestrero, D., additional, Rey, L., additional, Aroca, M., additional, Gallego, S., additional, Higuera, J., additional, De Pablo, R., additional, González, L. Rey, additional, Chávez, G. Narváez, additional, Lucas, J. Higuera, additional, Alonso, D. Cabestrero, additional, Ruiz, M. Aroca, additional, Valarezo, L. Jaramillo, additional, De Pablo Sánchez, R., additional, Real, A. Quinza, additional, Wigmore, T. W., additional, Bendavid, I., additional, Cohen, J., additional, Avisar, I., additional, Serov, I., additional, Kagan, I., additional, Singer, P., additional, Hanison, J, additional, Mirza, U, additional, Conway, D, additional, Takasu, A., additional, Tanaka, H., additional, Otani, N., additional, Ohde, S., additional, Ishimatsu, S., additional, Coffey, F, additional, Dissmann, P, additional, Mirza, K, additional, Lomax, M, additional, Dissmann, P., additional, Coffey, F., additional, Mirza, K., additional, Lomax, M., additional, Miner, JR, additional, Leto, R, additional, Markota, AM, additional, Gradišek, PG, additional, Aleksejev, VA, additional, Sinkovič, AS, additional, Romagnoli, S., additional, Chelazzi, C., additional, Zagli, G., additional, Benvenuti, F., additional, Mancinelli, P., additional, Boninsegni, P., additional, Paparella, L., additional, Bos, A. T., additional, Thomas, O., additional, Goslar, T., additional, Martone, A., additional, Sandu, P. R., additional, Rosu, V. A., additional, Capilnean, A., additional, Murgoi, P., additional, Lecavalier, A., additional, Jayaraman, D., additional, Rico, P., additional, Bellemare, P., additional, Gelinas, C., additional, Nishida, T., additional, Kinoshita, T., additional, Iwata, N., additional, Yamakawa, K., additional, Fujimi, S., additional, Maggi, L., additional, Sposato, F., additional, Citterio, G., additional, Bonarrigo, C., additional, Rocco, M., additional, Zani, V., additional, De Blasi, R. A., additional, Alcorn, D, additional, Barry, L, additional, Riedijk, M. A., additional, Milstein, D. M., additional, Caldas, J., additional, Panerai, R., additional, Camara, L., additional, Ferreira, G., additional, Bor-Seng-Shu, E., additional, Lima, M., additional, Galas, F., additional, Mian, N., additional, Nogueira, R., additional, de Oliveira, G. Queiroz, additional, Almeida, J., additional, Jardim, J., additional, Robinson, T. G., additional, Gaioto, F., additional, Hajjar, L. A., additional, Zabolotskikh, I., additional, Musaeva, T., additional, Saasouh, W., additional, Freeman, J., additional, Turan, A., additional, Saseedharan, S., additional, Pathrose, E., additional, Poojary, S., additional, Messika, J., additional, Martin, Y., additional, Maquigneau, N., additional, Henry-Lagarrigue, M., additional, Puechberty, C., additional, Stoclin, A., additional, Martin-Lefevre, L., additional, Blot, F., additional, Dreyfuss, D., additional, Dechanet, A., additional, Hajage, D., additional, Ricard, J., additional, Almeida, E., additional, Landoni, G., additional, Fukushima, J., additional, Fominskiy, E., additional, De Brito, C., additional, Cavichio, L., additional, Almeida, L., additional, Ribeiro, U., additional, Osawa, E., additional, Boltes, R., additional, Battistella, L., additional, Hajjar, L., additional, Fontela, P., additional, Lisboa, T., additional, Junior, L. Forgiarini, additional, Friedman, G. F., additional, Abruzzi, F., additional, Primo, J. Azevedo Peixoto, additional, Filho, P. Marques, additional, de Andrade, J. Stormorvski, additional, Brenner, K. Matos, additional, boeira, M. Scorsato, additional, Leães, C., additional, Rodrigues, C., additional, Vessozi, A., additional, Machado, A. SantAnna, additional, Weiler, M., additional, Bryce, H., additional, Hudson, A., additional, Law, T., additional, Reece-Anthony, R., additional, Molokhia, A., additional, Abtahinezhadmoghaddam, F., additional, Cumber, E., additional, Channon, L., additional, Wong, A., additional, Groome, R., additional, Gearon, D., additional, Varley, J., additional, Wilson, A., additional, Reading, J., additional, Zampieri, F. G., additional, Bozza, F. A., additional, Ferez, M., additional, Fernandes, H., additional, Japiassú, A., additional, Verdeal, J., additional, Carvalho, A. C., additional, Knibel, M., additional, Salluh, J. I., additional, Soares, M., additional, Gao, J., additional, Ahmadnia, E., additional, Patel, B., additional, MacKay, A., additional, Binning, S., additional, Pugh, R. J., additional, Battle, C., additional, Hancock, C., additional, Harrison, W., additional, Szakmany, T., additional, Mulders, F., additional, Vandenbrande, J., additional, Dubois, J., additional, Stessel, B., additional, Siborgs, K., additional, Ramaekers, D., additional, Silva, U. V., additional, Homena, W. S., additional, Fernandes, G. C., additional, Moraes, A. P., additional, Brauer, L., additional, Lima, M. F., additional, De Marco, F., additional, Maric, N., additional, Mackovic, M., additional, Udiljak, N., additional, Bosso, CE, additional, Caetano, RD, additional, Cardoso, AP, additional, Souza, OA, additional, Pena, R, additional, Mescolotte, MM, additional, Souza, IA, additional, Mescolotte, GM, additional, Bangalore, H., additional, Borrows, E., additional, Barnes, D., additional, Ferreira, V., additional, Azevedo, L., additional, Alencar, G., additional, Andrade, A., additional, Bierrenbach, A., additional, Buoninsegni, L. 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M., additional, Hohenstein, C., additional, Winning, J., additional, Sellami, W., additional, Hajjej, Z., additional, Bousselmi, M., additional, Gharsallah, H., additional, Labbene, I., additional, Ferjani, M., additional, Sattler, J., additional, Steinbrunner, D., additional, Poppert, H., additional, Schneider, G., additional, Blobner, M., additional, Kanz, K. G., additional, Schaller, S. J., additional, Apap, K., additional, Xuereb, G., additional, Massa, L., additional, Delvau, N., additional, Penaloza, A, additional, Liistro, G, additional, Thys, F, additional, Delattre, I. K., additional, Hantson, P., additional, Roy, P. M., additional, Gianello, P., additional, Hadîrcă, L, additional, Ghidirimschi, A, additional, Catanoi, N, additional, Scurtov, N, additional, Bagrinovschi, M, additional, Sohn, Y. S., additional, Cho, Y. C., additional, Golovin, B., additional, Creciun, O., additional, Ghidirimschi, A., additional, Bagrinovschi, M., additional, Tabbara, R., additional, Whitgift, J. Z., additional, Ishimaru, A., additional, Yaguchi, A., additional, Akiduki, N., additional, Namiki, M., additional, Takeda, M., additional, Tamminen, J. N., additional, Uusaro, A., additional, Taylor, C. G., additional, Mills, E. D., additional, Mackay, A. D., additional, Ponzoni, C., additional, Rabello, R., additional, Serpa, A., additional, Assunção, M., additional, Pardini, A., additional, Shettino, G., additional, Corrêa, T., additional, Vidal-Cortés, P. V., additional, Álvarez-Rocha, L., additional, Fernández-Ugidos, P., additional, Virgós-Pedreira, A., additional, Pérez-Veloso, M. A., additional, Suárez-Paul, I. M., additional, Del Río-Carbajo, L., additional, Fernández, S. Pita, additional, Castro-Iglesias, A., additional, Butt, A., additional, Alghabban, A. A., additional, Khurshid, S. K., additional, Ali, Z. A., additional, Nizami, I. N., additional, Salahuddin, N. S., additional, Alshahrani, M., additional, Alsubaie, A. W., additional, Alshamsy, A. S., additional, Alkhiliwi, B. A., additional, Alshammari, H. K., additional, Alshammari, M. B., additional, Telmesani, N. K., additional, Alshammari, R. B., additional, Asonto, L. P., additional, Damiani, L. P., additional, Bozza, F, additional, El Khattate, A., additional, Bizrane, M., additional, Madani, N., additional, Belayachi, J., additional, Abouqal, R., additional, Ramnarain, D., additional, Gouw-Donders, B., additional, Benstoem, C., additional, Moza, A., additional, Meybohm, P., additional, Stoppe, C., additional, Autschbach, R., additional, Devane, D., additional, Goetzenich, A., additional, Taniguchi, L. U., additional, Araujo, L., additional, Salgado, G., additional, Vieira, J. M., additional, Viana, J., additional, Ziviani, N., additional, Pessach, I., additional, Lipsky, A., additional, Nimrod, A., additional, O´Connor, M., additional, Matot, I., additional, Segal, E., additional, Kluzik, A., additional, Gradys, A., additional, Smuszkiewicz, P., additional, Trojanowska, I., additional, Cybulski, M., additional, De Jong, A., additional, Sebbane, M., additional, Chanques, G., additional, Jaber, S., additional, Rosa, R., additional, Robinson, C., additional, Bessel, M., additional, Cavalheiro, L., additional, Madeira, L., additional, Rutzen, W., additional, Oliveira, R., additional, Maccari, J., additional, Falavigna, M., additional, Sanchez, E., additional, Dutra, F., additional, Dietrich, C., additional, Balzano, P., additional, Rezende, J., additional, Teixeira, C., additional, Sinha, S., additional, Majhi, K., additional, Gorlicki, J. G., additional, Pousset, F. P., additional, Kelly, J., additional, Aron, J., additional, Gilbert, A. Crerar, additional, Urankar, N. Prevec, additional, Irazabal, M., additional, Bosque, M., additional, Manciño, J., additional, Kotsopoulos, A., additional, Jansen, N., additional, Abdo, W., additional, Casey, Ú. M., additional, O’Brien, B., additional, Plant, R., additional, and Doyle, B., additional

Published
2017
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160. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

Author

Heckman, M. G., Soto Ortolaza, A. I., Aasly, J. O., Abahuni, N., Annesi, G., Bacon, J. A., Bardien, S., Bozi, M., Brice, A., Brighina, L., Carr, J., Chartier Harlin, M., Dardiotis, E., Dickson, D. W., Diehl, N. N., Elbaz, A., Ferrarese, C., Fiske, B., Gibson, J. M., Gibson, R., Hadjigeorgiou, G. M., Hattori, N., J. P. A., Boczarska Jedynak, M., Jasinska Myga, B., Jeon, B. S., Kim, Y. J., Klein, C., Kruger, R., Kyratzi, E., Lesage, S., Lin, C., Lynch, T., Maraganore, D. M., Mellick, G. D., Mutez, E., Nilsson, C., Opala, G., Park, S. S., Petrucci, S., Puschmann, A., Quattrone, A., Sharma, M., Silburn, P. A., Sohn, Y. H., Stefanis, L., Tadic, V., Theuns, J., Tomiyama, H., Uitti, R. J., Valente, Enza Maria, Broeckhoven, C. V., S. v., De, Vassilatis, D. K., Vilariño Güell, C., White, L. R., Wirdefeldt, K., Wszolek, Z. K., Wu, R., Hentati, F., Farrer, M. J., Ross, O. A., G. E., Of, Heckman, M, Soto Ortolaza, A, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Boczarska Jedynak, M, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Petrucci, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, Van Broeckhoven, C, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Hentati, F, Farrer, M, and Ross, O

Subjects
Molecular Epidemiology, Genotype, Parkinson's disease, LRRK2, Parkinson Disease, Protein Serine-Threonine Kinases, association study, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Protein-Serine-Threonine Kinases, Polymorphism, Single Nucleotide, genetics [Protein-Serine-Threonine Kinases], Article, Genetics, Population, Gene Frequency, Haplotypes, genetics [Parkinson Disease], Humans, genetics, lrrk2, parkinson's disease, genetic association studies, population, genotype, haplotypes, hHumans, leucine-rich repeat serine-threonine protein kinase-2, molecular epidemiology, parkinson disease, polymorphism, single nucleotide, protein-serine-threonine kinases, gene frequency, genetic predisposition to disease, Genetic Predisposition to Disease, ddc:610, epidemiology [Parkinson Disease], LRRK2 protein, human, genetic, Genetic Association Studies
Abstract

Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease.The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries.Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.Establishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies.

Published
2013
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161. The effect of disease-modifying therapies on brain atrophy in patients with clinically isolated syndrome: A systematic review and meta-analysis

Author

Tsivgoulis, G. Katsanos, A.H. Grigoriadis, N. Voumvourakis, K. Hadjigeorgiou, G.M. Heliopoulos, I. Dardiotis, E. Papathanasopoulos, P. Kilidireas, C.

Abstract

Brain atrophy is associated with cognitive deficits in patients with clinically isolated syndrome (CIS) and can predict conversion to clinical definite multiple sclerosis. The aim of the present meta-analysis was to evaluate the effect of disease-modifying drugs (DMDs) on brain atrophy in patients with CIS. Methods: Eligible placebo-control randomized clinical trials of patients with CIS that had reported changes in brain volume during the study period were identified by searching the MEDLINE, SCOPUS, and Cochrane Central Register of Controlled Trials (CENTRAL) databases. This meta-analysis adopted the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for systematic reviews and meta-analyses. Results: Three eligible studies were identified, comprising 1362 patients. The mean percentage change in brain volume was found to be significantly lower in DMD-treated patients versus placebo-treated subgroups (standardized mean difference [SMD]: = −0.13, 95% confidence interval [CI]: −0.25, 0.01; p = 0.04). In the subgroup analysis of the two studies that provided data on brain-volume changes for the first (0-12 months) and second (13-24 months) year of treatment, DMD attenuated brain-volume loss in comparison with placebo during the second year (SMD = −0.25; 95% CI: −0.43, −0.07; p < 0.001), but not during the first year of treatment (SMD = −0.01; 95% CI: −0.27, 0.24; p = 0.93). No evidence of heterogeneity was found between estimates, while funnel-plot inspection revealed no evidence of publication bias. DMDs appear to attenuate brain atrophy over time in patients with CIS. The effect of DMDs on brain-volume loss is evident after the first year of treatment. © 2015, SAGE Publications. All rights reserved.

Published
2015

162. The Effect of Disease Modifying Therapies on Disease Progression in Patients with Relapsing-Remitting Multiple Sclerosis: A Systematic Review and Meta-Analysis

Author

Tsivgoulis, G. Katsanos, A.H. Grigoriadis, N. Hadjigeorgiou, G.M. Heliopoulos, I. Papathanasopoulos, P. Kilidireas, C. Voumvourakis, K. Dardiotis, E. Helani (Hellenic Academy Of Neuroimmunology)

Abstract

Importance: A number of officially approved disease-modifying drugs (DMD) are currently available for the early intervention in patients with relapsing-remitting multiple sclerosis (RRMS). The aim of the present study was to systematically evaluate the effect of DMDs on disability progression in RRMS Methods: We performed a systematic review on MEDLINE and SCOPUS databases to include all available placebo-controlled randomized clinical trials (RCTs) of RRMS patients that reported absolute numbers or percentages of disability progression during each study period. Observational studies, case series, case reports, RCTs without placebo subgroups and studies reporting the use of RRMS therapies that are not still officially approved were excluded. Risk ratios (RRs) were calculated in each study protocol to express the comparison of disability progression in RRMS patients treated with a DMD and those RRMS patients receiving placebo. The mixed-effects model was used to calculate both the pooled point estimate in each subgroup and the overall estimates. Results: DMDs for RRMS were found to have a significantly lower risk of disability progression compared to placebo (RR = 0.72, 95%CI: 0.66-0.79; p < 0.001), with no evidence of heterogeneity or publication bias. In subsequent subgroup analyses, neither dichotomization of DMDs as "first" and "second" line RRMS therapies [(RR = 0.72, 95% CI = 0.65-0.80) vs. (RR = 0.72, 95% = 0.57-0.91); p = 0.96] nor the route of administration (injectable or oral) [RR = 0.75 (95% CI = 0.64-0.87) vs. RR = 0.74 (95% CI = 0.66-0.83); p = 0.92] had a differential effect on the risk of disability progression. Either considerable (5-20%) or significant (>20%) rates of loss to follow-up were reported in many study protocols, while financial and/ or other support from pharmaceutical industries with a clear conflict of interest on the study outcomes was documented in all included studies. Conclusions: Available DMD are effective in reducing disability progression in patients with RRMS, independently of the route of administration and their classification as "first" or "second" line therapies. Attrition bias needs to be taken into account in the interpretation of these findings. © 2015 Tsivgoulis et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Published
2015

163. Safety of Intravenous Thrombolysis in Stroke Mimics

Author

Tsivgoulis, G. Zand, R. Katsanos, A.H. Goyal, N. Uchino, K. Chang, J. Dardiotis, E. Putaala, J. Alexandrov, A.W. Malkoff, M.D. Alexandrov, A.V.

Abstract

Background and Purpose - Shortening door-to-needle time may lead to inadvertent intravenous thrombolysis (IVT) administration in stroke mimics (SMs). We sought to determine the safety of IVT in SMs using prospective, single-center data and by conducting a comprehensive meta-analysis of reported case-series. Methods - We prospectively analyzed consecutive IVT-treated patients during a 5-year period at a tertiary care stroke center. A systematic review and meta-analysis of case-series reporting safety of IVT in SMs and confirmed acute ischemic stroke were conducted. Symptomatic intracerebral hemorrhage was defined as imaging evidence of ICH with an National Institutes of Health Stroke scale increase of ≥4 points. Favorable functional outcome at hospital discharge was defined as a modified Rankin Scale score of 0 to 1. Results - Of 516 consecutive IVT patients at our tertiary care center (50% men; mean age, 60±14 years; median National Institutes of Health Stroke scale, 11; range, 3-22), SMs comprised 75 cases. Symptomatic intracerebral hemorrhage occurred in 1 patient, whereas we documented no cases of orolingual edema or major extracranial hemorrhagic complications. In meta-analysis of 9 studies (8942 IVT-treated patients), the pooled rates of symptomatic intracerebral hemorrhage and orolingual edema among 392 patients with SM treated with IVT were 0.5% (95% confidence interval, 0%-2%) and 0.3% (95% confidence interval, 0%-2%), respectively. Patients with SM were found to have a significantly lower risk for symptomatic intracerebral hemorrhage compared with patients with acute ischemic stroke (risk ratio=0.33; 95% confidence interval, 0.14-0.77; P=0.010), with no evidence of heterogeneity or publication bias. Favorable functional outcome was almost 3-fold higher in patients with SM in comparison with patients with acute ischemic stroke (risk ratio=2.78; 95% confidence interval, 2.07-3.73; P

Published
2015

164. Observational study assessing demographic, economic and clinical factors associated with access and utilization of health care services of patients with multiple sclerosis under treatment with interferon beta-1b (EXTAVIA)

Author

Hadjigeorgiou, G. Dardiotis, E. Tsivgoulis, G. Doskas, T. Petrou, D. Makris, N. Vlaikidis, N. Thomaidis, T. Kyritsis, A. Fakas, N. Treska, X. Karageorgiou, C. Sotirli, S. Giannoulis, C. Papadimitriou, D. Mylonas, I. Kouremenos, E. Vlachos, G. Georgiopoulos, D. Mademtzoglou, D. Vikelis, M. Zintzaras, E.

Abstract

Multiple sclerosis (MS) results in an extensive use of the health care system, even within the first years of diagnosis. The effectiveness and accessibility of the health care system may affect patients' quality of life. The aim of the present study was to evaluate the health care resource use of MS patients under interferon beta-1b (EXTAVIA) treatment in Greece, the demographic or clinical factors that may affect this use and also patient satisfaction with the health care system. Structured interviews were conducted for data collection. In total, 204 patients (74.02% females, mean age (SD) 43.58 (11.42) years) were enrolled in the study. Analysis of the reported data revealed that during the previous year patients made extensive use of health services in particular neurologists (71.08% visited neurologists in public hospitals, 66.67% in private offices and 48.53% in insurance institutes) and physiotherapists. However, the majority of the patients (52.45%) chose as their treating doctor private practice neurologists, which may reflect accessibility barriers or low quality health services in the public health system. Patients seemed to be generally satisfied with the received health care, support and information on MS (84.81% were satisfied from the information provided to them). Patients' health status (as denoted by disease duration, disability status and hospitalization needs) and insurance institute were found to influence their visits to neurologists. Good adherence (up to 70.1%) to the study medication was reported. Patients' feedback on currently provided health services could direct these services towards the patients' expectations. © 2014 Hadjigeorgiou et al.

Published
2014

165. Assessment of Parkinson's disease risk loci in Greece

Author

Kara, E. Xiromerisiou, G. Spanaki, C. Bozi, M. Koutsis, G. Panas, M. Dardiotis, E. Ralli, S. Bras, J. Letson, C. Edsall, C. Pliner, H. Arepalli, S. Kalinderi, K. Fidani, L. Bostantjopoulou, S. Keller, M.F. Wood, N.W. Hardy, J. Houlden, H. Stefanis, L. Plaitakis, A. Hernandez, D. Hadjigeorgiou, G.M. Nalls, M.A. Singleton, A.B.

Abstract

Genome-wide association studies (GWAS) have been shown to be a powerful approach to identify risk loci for neurodegenerative diseases. Recent GWAS in Parkinson's disease (PD) have been successful in identifying numerous risk variants pointing to novel pathways potentially implicated in the pathogenesis of PD. Contributing to these GWAS efforts, we performed genotyping of previously identified risk alleles in PD patients and control subjects from Greece. We showed that previously published risk profiles for Northern European and American populations are also applicable to the Greek population. In addition, although our study was largely underpowered to detect individual associations, we replicated 5 of 32 previously published risk variants with nominal p values

Published
2014

166. The role of neurosonology in the diagnosis of vascular dementia

Author

Tsivgoulis, G. Katsanos, A.H. Papageorgiou, S.G. Dardiotis, E. Voumvourakis, K. Giannopoulos, S.

Abstract

Although transcranial sonography is not yet an established diagnostic modality for dementia screening or differential diagnosis of Alzheimer's disease (AD) from vascular dementia (VaD), intracranial hemodynamic assessment may provide crucial information about the association between cognitive deterioration and vascular risk factors. We conducted a systematic narrative review of available literature through MEDLINE and EMBASE search to identify all available data about the evaluation of VaD patients with transcranial Doppler, and to discuss further the vascular disorders of the cerebral circulation in patients with vascular cognitive impairment. According to the available literature data to date, VaD patients were found to have lower mean flow velocity values in four studies (indicating cerebral hypoperfusion), higher pulsatility indices in three studies (indicating increased downstream vascular resistance), and more severe impairment of cerebrovascular reactivity in five studies (indicating exhausted vasodilatory reserve) compared to AD patients and controls. Microembolic signals were also found to be significantly more common in patients with VaD or AD compared to their age-and gender-matched controls, suggesting that asymptomatic microembolism, apart for being only marker of VaD, could presumably be involved in the genesis of dementia, and in the overlap between VaD and AD. Further studies with larger and carefully selected groups are required to eliminate potential confounders and to set specific cut-off values for the aforementioned hemodynamic parameters in demented patients and dementia subtypes. © 2014-IOS Press and the authors.

Published
2014

167. The hellenic longitudinal investigation of aging and diet (HELIAD): Rationale, study design, and cohort description

Author

Dardiotis, E. Kosmidis, M.H. Yannakoulia, M. Hadjigeorgiou, G.M. Scarmeas, N.

Abstract

Background: Accumulating epidemiological evidence from several populations supports the important role of the Mediterranean- type diet (MeDi) in reducing the risk for age-related diseases such as Alzheimer's disease (AD). However, the relevant literature is clearly deficient for most Mediterranean countries that more closely adhere to the originally described MeDi. Greece resides in the Mediterranean basin, and older generations traditionally adhere to a MeDi. Methods: We here present the design and the preliminary baseline characteristics of the Hellenic Longitudinal Investigation of Aging and Diet (HELIAD). The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population. The study also ascertains several demographic, medical, social, environmental, clinical, nutritional, and neuropsychological determinants and lifestyle activities. Results: In total, 1,050 participants of a random sample have already completed the initial evaluation. The subjects were, on average, 73.4 (SD = 6.0) years old, 60% of the sample were female, and most of the participants were poorly educated with an average of 5.41 (SD = 3.5) years of education. The performance on the neuropsychological tests was equivalent to the average scores of previous normative Greek samples. More than one third of the population under investigation was considered to be at high risk for malnutrition. Conclusions: The HELIAD may provide important data for expanding our knowledge regarding the prevalence, incidence, and risk factors of AD and several other neuropsychiatric diseases in the Mediterranean region. © 2014 S. Karger AG, Basel.

Published
2014

168. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Author

Nalls, M.A. Pankratz, N. Lill, C.M. Do, C.B. Hernandez, D.G. Saad, M. Destefano, A.L. Kara, E. Bras, J. Sharma, M. Schulte, C. Keller, M.F. Arepalli, S. Letson, C. Edsall, C. Stefansson, H. Liu, X. Pliner, H. Lee, J.H. Cheng, R. Ikram, M.A. Ioannidis, J.P.A. Hadjigeorgiou, G.M. Bis, J.C. Martinez, M. Perlmutter, J.S. Goate, A. Marder, K. Fiske, B. Sutherland, M. Xiromerisiou, G. Myers, R.H. Clark, L.N. Stefansson, K. Hardy, J.A. Heutink, P. Chen, H. Wood, N.W. Houlden, H. Payami, H. Brice, A. Scott, W.K. Gasser, T. Bertram, L. Eriksson, N. Foroud, T. Singleton, A.B. Plagnol, V. Sheerin, U.-M. Simón-Sánchez, J. Lesage, S. Sveinbjörnsdóttir, S. Barker, R. Ben-Shlomo, Y. Berendse, H.W. Berg, D. Bhatia, K. de Bie, R.M.A. Biffi, A. Bloem, B. Bochdanovits, Z. Bonin, M. Bras, J.M. Brockmann, K. Brooks, J. Burn, D.J. Charlesworth, G. Chinnery, P.F. Chong, S. Clarke, C.E. Cookson, M.R. Cooper, J.M. Corvol, J.C. Counsell, C. Damier, P. Dartigues, J.-F. Deloukas, P. Deuschl, G. Dexter, D.T. van Dijk, K.D. Dillman, A. Durif, F. Dürr, A. Edkins, S. Evans, J.R. Foltynie, T. Dong, J. Gardner, M. Gibbs, J.R. Gray, E. Guerreiro, R. Harris, C. van Hilten, J.J. Hofman, A. Hollenbeck, A. Holton, J. Hu, M. Huang, X. Wurster, I. Mätzler, W. Hudson, G. Hunt, S.E. Huttenlocher, J. Illig, T. Jónsson, P.V. Lambert, J.-C. Langford, C. Lees, A. Lichtner, P. Limousin, P. Lopez, G. Lorenz, D. McNeill, A. Moorby, C. Moore, M. Morris, H.R. Morrison, K.E. Mudanohwo, E. O’sullivan, S.S. Pearson, J. Pétursson, H. Pollak, P. Post, B. Potter, S. Ravina, B. Revesz, T. Riess, O. Rivadeneira, F. Rizzu, P. Ryten, M. Sawcer, S. Schapira, A. Scheffer, H. Shaw, K. Shoulson, I. Sidransky, E. Smith, C. Spencer, C.C.A. Stefánsson, H. Bettella, F. Stockton, J.D. Strange, A. Talbot, K. Tanner, C.M. Tashakkori-Ghanbaria, A. Tison, F. Trabzuni, D. Traynor, B.J. Uitterlinden, A.G. Velseboer, D. Vidailhet, M. Walker, R. van de Warrenburg, B. Wickremaratchi, M. Williams, N. Williams-Gray, C.H. Winder-Rhodes, S. Stefánsson, K. Hardy, J. Factor, S. Higgins, D. Evans, S. Shill, H. Stacy, M. Danielson, J. Marlor, L. Williamson, K. Jankovic, J. Hunter, C. Simon, D. Ryan, P. Scollins, L. Saunders-Pullman, R. Boyar, K. Costan-Toth, C. Ohmann, E. Sudarsky, L. Joubert, C. Friedman, J. Chou, K. Fernandez, H. Lannon, M. Galvez-Jimenez, N. Podichetty, A. Thompson, K. Lewitt, P. Deangelis, M. O'brien, C. Seeberger, L. Dingmann, C. Judd, D. Marder, K. Fraser, J. Harris, J. Bertoni, J. Peterson, C. Rezak, M. Medalle, G. Chouinard, S. Panisset, M. Hall, J. Poiffaut, H. Calabrese, V. Roberge, P. Wojcieszek, J. Belden, J. Jennings, D. Marek, K. Mendick, S. Reich, S. Dunlop, B. Jog, M. Horn, C. Uitti, R. Turk, M. Ajax, T. Mannetter, J. Sethi, K. Carpenter, J. Dill, B. Hatch, L. Ligon, K. Narayan, S. Blindauer, K. Abou-Samra, K. Petit, J. Elmer, L. Aiken, E. Davis, K. Schell, C. Wilson, S. Velickovic, M. Koller, W. Phipps, S. Feigin, A. Gordon, M. Hamann, J. Licari, E. Marotta-Kollarus, M. Shannon, B. Winnick, R. Simuni, T. Videnovic, A. Kaczmarek, A. Williams, K. Wolff, M. Rao, J. Cook, M. Fernandez, M. Kostyk, S. Hubble, J. Campbell, A. Reider, C. Seward, A. Camicioli, R. Carter, J. Nutt, J. Andrews, P. Morehouse, S. Stone, C. Mendis, T. Grimes, D. Alcorn-Costa, C. Gray, P. Haas, K. Vendette, J. Sutton, J. Hutchinson, B. Young, J. Rajput, A. Klassen, L. Shirley, T. Manyam, B. Simpson, P. Whetteckey, J. Wulbrecht, B. Truong, D. Pathak, M. Frei, K. Luong, N. Tra, T. Tran, A. Vo, J. Lang, A. Kleiner-Fisman, G. Nieves, A. Johnston, L. So, J. Podskalny, G. Giffin, L. Atchison, P. Allen, C. Martin, W. Wieler, M. Suchowersky, O. Furtado, S. Klimek, M. Hermanowicz, N. Niswonger, S. Shults, C. Fontaine, D. Aminoff, M. Christine, C. Diminno, M. Hevezi, J. Dalvi, A. Kang, U. Richman, J. Uy, S. Sahay, A. Gartner, M. Schwieterman, D. Hall, D. Leehey, M. Culver, S. Derian, T. Demarcaida, T. Thurlow, S. Rodnitzky, R. Dobson, J. Lyons, K. Pahwa, R. Gales, T. Thomas, S. Shulman, L. Weiner, W. Dustin, K. Singer, C. Zelaya, L. Tuite, P. Hagen, V. Rolandelli, S. Schacherer, R. Kosowicz, J. Gordon, P. Werner, J. Serrano, C. Roque, S. Kurlan, R. Berry, D. Gardiner, I. Hauser, R. Sanchez-Ramos, J. Zesiewicz, T. Delgado, H. Price, K. Rodriguez, P. Wolfrath, S. Pfeiffer, R. Davis, L. Pfeiffer, B. Dewey, R. Hayward, B. Johnson, A. Meacham, M. Estes, B. Walker, F. Hunt, V. O'neill, C. Racette, B. Swisher, L. Dijamco, C. Conley, E.D. Dorfman, E. Tung, J.Y. Hinds, D.A. Mountain, J.L. Wojcicki, A. Lew, M. Klein, C. Golbe, L. Growdon, J. Wooten, G.F. Watts, R. Guttman, M. Goldwurm, S. Saint-Hilaire, M.H. Baker, K. Litvan, I. Nicholson, G. Nance, M. Drasby, E. Isaacson, S. Burn, D. Pramstaller, P. Al-Hinti, J. Moller, A. Sherman, S. Roxburgh, R. Slevin, J. Perlmutter, J. Mark, M.H. Huggins, N. Pezzoli, G. Massood, T. Itin, I. Corbett, A. Chinnery, P. Ostergaard, K. Snow, B. Cambi, F. Kay, D. Samii, A. Agarwal, P. Roberts, J.W. Higgins, D.S. Molho, E. Rosen, A. Montimurro, J. Martinez, E. Griffith, A. Kusel, V. Yearout, D. Factor, S. Zabetian, C. Clark, L.N. Liu, X. Lee, J.H. Cheng Taub, R. Louis, E.D. Cote, L.J. Waters, C. Ford, B. Fahn, S. Vance, J.M. Beecham, G.W. Martin, E.R. Nuytemans, K. Pericak-Vance, M.A. Haines, J.L. Destefano, A. Seshadri, S. Choi, S.H. Frank, S. Bis, J.C. Psaty, B.M. Rice, K. Longstreth, W.T., Jr. Ton, T.G.N. Jain, S. van Duijn, C.M. Uitterlinden, A.G. Verlinden, V.J. Koudstaal, P.J. Singleton, A. Cookson, M. Gibbs, J.R. Hernandez, D. Nalls, M. Zonderman, A. Ferrucci, L. Johnson, R. Longo, D. O'brien, R. Traynor, B. Troncoso, J. van der Brug, M. Zielke, R. Weale, M. Ramasamy, A. Dardiotis, E. Tsimourtou, V. Spanaki, C. Plaitakis, A. Bozi, M. Stefanis, L. Vassilatis, D. Koutsis, G. Panas, M. Hadjigeorgiou, G.M. Lunnon, K. Lupton, M. Powell, J. Parkkinen, L. Ansorge, O. International Parkinson's Disease Genomics Consortium (IPDGC) Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) 23andMe GenePD NeuroGenetics Research Consortium (NGRC) Hussman Institute of Human Genomics (HIHG) The Ashkenazi Jewish Dataset Investigator Cohorts for Health Aging Research in Genetic Epidemiology (CHARGE) North American Brain Expression Consortium (NABEC) United Kingdom Brain Expression Consortium (UKBEC) Greek Parkinson's Disease Consortium Alzheimer Genetic Analysis Group

Abstract

We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide significant association; these and 6 additional previously reported loci were then tested in an independent set of 5,353 cases and 5,551 controls. Of the 32 tested SNPs, 24 replicated, including 6 newly identified loci. Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant. In total, we identified and replicated 28 independent risk variants for Parkinson's disease across 24 loci. Although the effect of each individual locus was small, risk profile analysis showed substantial cumulative risk in a comparison of the highest and lowest quintiles of genetic risk (odds ratio (OR) = 3.31, 95% confidence interval (CI) = 2.55-4.30; P = 2 × 10-16). We also show six risk loci associated with proximal gene expression or DNA methylation. © 2014 Nature America, Inc. All rights reserved.

Published
2014

170. Restless legs syndrome and mortality in hemodialysis patients

Author

Stefanidis, I., primary, Vainas, A., additional, Giannaki, C.D., additional, Dardiotis, E., additional, Spanoulis, A., additional, Sounidaki, M., additional, Eleftheriadis, T., additional, Liakopoulos, V., additional, Karatzaferi, C., additional, Sakkas, G.K., additional, Zintzaras, E., additional, and Hadjigeorgiou, G.M., additional

Published
2016
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171. Genetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece

Author

Tsiloulis, A. N., primary, Zacharaki, F., additional, Kotoula, M. G., additional, Chatzoulis, D. Z., additional, Morrison, M. A., additional, Mayne, K., additional, Dardiotis, E., additional, Stefanidis, I. L., additional, Almpanidou, P., additional, DeAngelis, M. M., additional, and Tsironi, E. E., additional

Published
2016
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172. PROGRESS OF INTERNATIONAL GUILLAIN-BARRE STUDY (IGOS): A PROSPECTIVE STUDY ON CLINICAL AND BIOLOGICAL PREDICTORS OF DISEASE COURSE AND OUTCOME

Author

Verboon, C., van den Berg, B., Chavada, G., Willison, H. J., Harbo, T., Gorson, K. C., Hartung, H-P, Lehmann, H. C., Kusunoki, S., Illa, I., Nobile-Orazio, E., Reisin, R. C., Reddel, S. W., Islam, Z., Islam, B., Mohammad, Q. D., van den Bergh, P., Feasby, T. E., Pereon, Y., Shahrizaila, N., Hsieh, S-T, Bateman, K., Dardiotis, E., van Doom, P. A., Hughes, R. A. C., Cornblath, D. R., Jacobs, B. C., Verboon, C., van den Berg, B., Chavada, G., Willison, H. J., Harbo, T., Gorson, K. C., Hartung, H-P, Lehmann, H. C., Kusunoki, S., Illa, I., Nobile-Orazio, E., Reisin, R. C., Reddel, S. W., Islam, Z., Islam, B., Mohammad, Q. D., van den Bergh, P., Feasby, T. E., Pereon, Y., Shahrizaila, N., Hsieh, S-T, Bateman, K., Dardiotis, E., van Doom, P. A., Hughes, R. A. C., Cornblath, D. R., and Jacobs, B. C.

Published
2015

175. Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene

Author

Daiou, C. Christodoulou, K. Xiromerisiou, G. Panas, M. Dardiotis, E. Kladi, A. Speletas, M. Ntaios, G. Papadimitriou, A. Germenis, A. Hadjigeorgiou, G.M.

Abstract

Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion in frataxin gene. In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous). No detectable point mutation or deletion was found in the aprataxin gene of all the patients. Our results do not confirm the previous studies. This difference may be attributed to the different populations studied and possible different genetic background. It is still questionable whether the screening for aprataxin mutation in Greek patients' Friedreich ataxia phenotype is of clinical importance; larger, multicenter studies are necessary to clarify this issue. © Springer-Verlag 2009.

Published
2010

176. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Author

Theuns, J, Verstraeten, A, Sleegers, K, Wauters, E, Gijselinck, I, Smolders, S, Crosiers, D, Corsmit, E, Elinck, E, Sharma, M, Krüger, R, Lesage, S, Brice, A, Chung, S, Kim, M, Kim, Y, Ross, O, Wszolek, Z, Rogaeva, E, Xi, Z, Lang, A, Klein, C, Weissbach, A, Mellick, G, Silburn, P, Hadjigeorgiou, G, Dardiotis, E, Hattori, N, Ogaki, K, Tan, E, Zhao, Y, Aasly, J, Valente, E, Petrucci, S, Annesi, G, Quattrone, A, Ferrarese, C, Brighina, L, Deutschländer, A, Puschmann, A, Nilsson, C, Garraux, G, Ledoux, M, Pfeiffer, R, Boczarska Jedynak, M, Opala, G, Maraganore, D, Engelborghs, S, De Deyn, P, Cras, P, Cruts, M, Van Broeckhoven, C, Van Broeckhoven, C., FERRARESE, CARLO, Theuns, J, Verstraeten, A, Sleegers, K, Wauters, E, Gijselinck, I, Smolders, S, Crosiers, D, Corsmit, E, Elinck, E, Sharma, M, Krüger, R, Lesage, S, Brice, A, Chung, S, Kim, M, Kim, Y, Ross, O, Wszolek, Z, Rogaeva, E, Xi, Z, Lang, A, Klein, C, Weissbach, A, Mellick, G, Silburn, P, Hadjigeorgiou, G, Dardiotis, E, Hattori, N, Ogaki, K, Tan, E, Zhao, Y, Aasly, J, Valente, E, Petrucci, S, Annesi, G, Quattrone, A, Ferrarese, C, Brighina, L, Deutschländer, A, Puschmann, A, Nilsson, C, Garraux, G, Ledoux, M, Pfeiffer, R, Boczarska Jedynak, M, Opala, G, Maraganore, D, Engelborghs, S, De Deyn, P, Cras, P, Cruts, M, Van Broeckhoven, C, Van Broeckhoven, C., and FERRARESE, CARLO

Abstract

Objectives: The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G4C2)n.60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease

Published
2014

177. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Author

Theuns, J., Verstraeten, A., Sleegers, K., Wauters, E., Gijselinck, I., Smolders, S., Crosiers, D., Corsmit, E., Elinck, E., Sharma, M., Kruger, R., Lesage, S., Brice, A., Chung, S. J., Kim, M. J., Kim, Y. J., Ross, O. A., Wszolek, Z. K., Rogaeva, E., Xi, Z., Lang, A. E., Klein, C., Weissbach, A., Mellick, G. D., Silburn, P. A., Hadjigeorgiou, G. M., Dardiotis, E., Hattori, N., Ogaki, K., Tan, E. K., Zhao, Y., Aasly, J., Valente, E. M., Petrucci, S., Annesi, G., Quattrone, A., Ferrarese, C., Brighina, L., Deutschlander, A., Puschmann, Andreas, Nilsson, C., Garraux, G., LeDoux, M. S., Pfeiffer, R. F., Boczarska-Jedynak, M., Opala, G., Maraganore, D. M., Engelborghs, S., De Deyn, P. P., Cras, P., Cruts, M., Van Broeckhoven, C., Theuns, J., Verstraeten, A., Sleegers, K., Wauters, E., Gijselinck, I., Smolders, S., Crosiers, D., Corsmit, E., Elinck, E., Sharma, M., Kruger, R., Lesage, S., Brice, A., Chung, S. J., Kim, M. J., Kim, Y. J., Ross, O. A., Wszolek, Z. K., Rogaeva, E., Xi, Z., Lang, A. E., Klein, C., Weissbach, A., Mellick, G. D., Silburn, P. A., Hadjigeorgiou, G. M., Dardiotis, E., Hattori, N., Ogaki, K., Tan, E. K., Zhao, Y., Aasly, J., Valente, E. M., Petrucci, S., Annesi, G., Quattrone, A., Ferrarese, C., Brighina, L., Deutschlander, A., Puschmann, Andreas, Nilsson, C., Garraux, G., LeDoux, M. S., Pfeiffer, R. F., Boczarska-Jedynak, M., Opala, G., Maraganore, D. M., Engelborghs, S., De Deyn, P. P., Cras, P., Cruts, M., and Van Broeckhoven, C.

Abstract

OBJECTIVES: The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. METHODS: C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. RESULTS: A pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low. CONCLUSIONS: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.

Published
2014

178. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

Author

Dardiotis, E. Koutsou, P. Papanicolaou, E.Z. Vonta, I. Kladi, A. Vassilopoulos, D. Hadjigeorgiou, G. Christodoulou, K. Kyriakides, T.

Abstract

Objectives. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met in the Cypriot population. Methods. The clinical and neurogenetic databases were used to identify probands with FAP TTRVal30Met and detailed family trees were constructed. Potential carriers of the mutation were identified from the family trees and assessed clinically and genetically. Transthyretin was completely sequenced in patients and potential carriers. Results. Thirty-six patients carrying the TTRVal30Met mutation (one homozygote) from 22 families were identified. On 1 December 2003 the prevalence of FAP was 3.72/100,000 while the incidence is estimated to be 0.69/100,000 per year. The phenotype observed was characteristic for a length dependent sensorimotor and autonomic neuropathy with neuropathic pain. Mean age of onset was 46 years. Penetrance is estimated to be 28% and positive anticipation in the age of onset is found. Conclusion. FAP is relatively prevalent in Cyprus which may be considered as another endemic focus of the disease in Europe. The mean age of onset and penetrance is different from the Portuguese and Swedish populations. Understanding the biological factors that determine these differences could potentially lead to therapeutic advances.

Published
2009

179. Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

Author

Heckman, M, Soto Ortolaza, A, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Boczarska Jedynak, M, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Petrucci, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, Van Broeckhoven, C, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Hentati, F, Farrer, M, Ross, O, Heckman, MG, Soto Ortolaza, AI, Aasly, JO, Bacon, JA, Dickson, DW, Diehl, NN, Gibson, JM, Hadjigeorgiou, GM, Ioannidis, JPA, Jeon, BS, Kim, YJ, Maraganore, DM, Mellick, GD, Park, SS, Silburn, PA, Sohn, YH, Uitti, RJ, Valente, EM, Vassilatis, DK, White, LR, Wszolek, ZK, Farrer, MJ, Ross, OA, FERRARESE, CARLO, Heckman, M, Soto Ortolaza, A, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Boczarska Jedynak, M, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Petrucci, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, Van Broeckhoven, C, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Hentati, F, Farrer, M, Ross, O, Heckman, MG, Soto Ortolaza, AI, Aasly, JO, Bacon, JA, Dickson, DW, Diehl, NN, Gibson, JM, Hadjigeorgiou, GM, Ioannidis, JPA, Jeon, BS, Kim, YJ, Maraganore, DM, Mellick, GD, Park, SS, Silburn, PA, Sohn, YH, Uitti, RJ, Valente, EM, Vassilatis, DK, White, LR, Wszolek, ZK, Farrer, MJ, Ross, OA, and FERRARESE, CARLO

Abstract

Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease.

Published
2013

180. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

Author

Ross, O, Soto Ortolaza, A, Heckman, M, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Van Broeckhoven, C, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Ferraris, A, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Farrer, M, FERRARESE, CARLO, Farrer, M., Ross, O, Soto Ortolaza, A, Heckman, M, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Van Broeckhoven, C, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Ferraris, A, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Farrer, M, FERRARESE, CARLO, and Farrer, M.

Abstract

Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. Methods LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. Findings 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.

Published
2011

181. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Author

Elbaz, A, Ross, Oa, Ioannidis, Jp, Soto Ortolaza, Ai, Aasly, J, Bozi, M, Chartier Harlin, Mc, Destée, A, Ferrarese, C, Ferraris, A, Gibson, Jm, Hadjigeorgiou, Gm, Jasinska Myga, B, Klein C, Krüger R, Lohmann, K, Loriot, Ma, Mellick, Gd, Mutez, E, Nilsson, C, Puschmann, A, Quattrone, A, Sharma, M, Silburn, Pa, Stefanis, L, Valente, Em, Vilariño Güell, C, Wirdefeldt, K, Wszolek, Zk, Xiromerisiou, G, Farrer, Mj, Amouyel, P, Tzourio, C, Mulot, C, Bacon, Ja, Cobb, Sa, Sutherland, Gt, Siebert, Ga, Dissanayaka, N, O'Sullivan, Jd, Boyle, R, Bordet, R, Legendre, Jp, Auburger, G, Abahuni, N, Winkler, S, Gasser, T, Riess, O, Berg, D, Schulte, C, Vassilatis, D, Stamboulis, E, Dardiotis, E, Patramani, I, Kountra, Pm, Vogiatzi, C, Markou, K, Tarantino, P, Annesi, F, Bentivoglio, Anna Rita, Guidubaldi, Arianna, Caccialupi, M, De Nigris, Francesca, Pedersen, Nl, Reimer, J, Lash, J, Searcy, J, Strongosky, A., Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Elbaz, A, Ross, Oa, Ioannidis, Jp, Soto Ortolaza, Ai, Aasly, J, Bozi, M, Chartier Harlin, Mc, Destée, A, Ferrarese, C, Ferraris, A, Gibson, Jm, Hadjigeorgiou, Gm, Jasinska Myga, B, Klein C, Krüger R, Lohmann, K, Loriot, Ma, Mellick, Gd, Mutez, E, Nilsson, C, Puschmann, A, Quattrone, A, Sharma, M, Silburn, Pa, Stefanis, L, Valente, Em, Vilariño Güell, C, Wirdefeldt, K, Wszolek, Zk, Xiromerisiou, G, Farrer, Mj, Amouyel, P, Tzourio, C, Mulot, C, Bacon, Ja, Cobb, Sa, Sutherland, Gt, Siebert, Ga, Dissanayaka, N, O'Sullivan, Jd, Boyle, R, Bordet, R, Legendre, Jp, Auburger, G, Abahuni, N, Winkler, S, Gasser, T, Riess, O, Berg, D, Schulte, C, Vassilatis, D, Stamboulis, E, Dardiotis, E, Patramani, I, Kountra, Pm, Vogiatzi, C, Markou, K, Tarantino, P, Annesi, F, Bentivoglio, Anna Rita, Guidubaldi, Arianna, Caccialupi, M, De Nigris, Francesca, Pedersen, Nl, Reimer, J, Lash, J, Searcy, J, Strongosky, A., and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

OBJECTIVE: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium. METHODS: Participants of Caucasian ancestry were genotyped for a total of 4 SNCA (rs2583988, rs181489, rs356219, rs11931074) and 2 MAPT (rs1052553, rs242557) single nucleotide polymorphism (SNPs). Individual and joint effects of SNCA and MAPT SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied on both a multiplicative and an additive scale, and using a case-control and case-only approach. RESULTS: Fifteen GEO-PD sites contributed a total of 5,302 cases and 4,161 controls. All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For SNCA, the strongest associations were observed for SNPs located at the 3' end of the gene. There was no evidence of statistical interaction between any of the 4 SNCA SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale. INTERPRETATION: This study confirms the association between PD and both SNCA SNPs and the H1 MAPT haplotype. It shows, based on a variety of approaches, that the joint action of variants in these 2 loci is consistent with independent effects of the genes without additional interacting effects.

Published
2011

183. The Emerging Role of Helicobacter Pylori-Induced Metabolic Gastrointestinal Dysmotility and Neurodegeneration

Author

Kountouras, J., Boziki, M., Polyzos, S.A., Katsinelos, P., Gavalas, E., Zeglinas, C., Tzivras, D., Romiopoulos, I., Giorgakis, N., Anastasiadou, K., Vardaka, E., Kountouras, C., Kazakos, E., Giartza-Taxidou, E., Deretzi, G., Dardiotis, E., Kotronis, G., and Doulberis, M.

Abstract

Helicobacter pylori infection (Hp-I) is a prevalent disorder identified in the majority of the population in many countries around the world and is responsible for substantial gastrointestinal morbidity. Likewise, neurodegenerative diseases such as Alzheimer's disease, Parkinson's diseases, multiple sclerosis or glaucoma defined as ocular Alzheimer's disease, are associated with a large public health burden and are among the leading causes of disability. Emerging evidences suggest that Hp-I may be associated with neurodegenerative conditions. Moreover, Hp-I could be a predictor of metabolic syndrome (MetS). Hp-I and its related MetS may induce gastrointestinal tract dys-motility disorders with systemic complications possibly including central nervous system neurodegenerative pathologies. We hereby explore the emerging role of Hprelated metabolic gastrointestinal dys-motilities on the molecular pathophysiology of Hprelated neurodegenerative and gastrointestinal disorders. Improving understanding of such Hp-I pathophysiology in brain pathologies may offer benefits by application of new relative therapeutic strategies including novel opportunities toward enhancing Hp eradication.

Published
2017
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185. MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

Author

Schormair, B., primary, Plag, J., additional, Kaffe, M., additional, Gross, N., additional, Czamara, D., additional, Samtleben, W., additional, Lichtner, P., additional, Strohle, A., additional, Stefanidis, I., additional, Vainas, A., additional, Dardiotis, E., additional, Sakkas, G. K., additional, Gieger, C., additional, Muller-Myhsok, B., additional, Meitinger, T., additional, Heemann, U., additional, Hadjigeorgiou, G. M., additional, Oexle, K., additional, and Winkelmann, J., additional

Published
2011
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187. Alpha-1 Antichymotrypsin Gene Signal Peptide A/T Polymorphism and Primary Intracerebral Hemorrhage

Author

Dardiotis, E., primary, Hadjigeorgiou, G.M., additional, Dardioti, M., additional, Scarmeas, N., additional, Paterakis, K., additional, Aggelakis, K., additional, Komnos, A., additional, Tasiou, A., additional, Xiromerisiou, G., additional, Gabranis, I., additional, Zintzaras, E., additional, Papadimitriou, A., additional, and Karantanas, A., additional

Published
2008
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191. Microbes and Alzheimer' disease: lessons from H. pylori and GUT microbiota.

Author

Doulberis, M., Papaefthymiou, A., Polyzos, S. A., Boziki, M., Deretzi, G., Giartza-Taxidou, E., Vardaka, E., Grigoriadis, N., Katsinelos, T., Touloumtzi, M., Papanikopoulou, K., Anastasiadou, K., Georgopoulos, S., Dardiotis, E., Anastasiadis, S., Katsinelos, P., and Kountouras, J.

Published
2019

192. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Author

Theuns, J., Verstraeten, A., Sleegers, K., Wauters, E., Gijselinck, I., Smolders, S., Crosiers, D., Corsmit, E., Elinck, E., Sharma, M., Krüger, R., Lesage, S., Brice, A., Chung, S. J., Kim, M. -J, Kim, Y. J., Ross, O. A., Wszolek, Z. K., Rogaeva, E., Xi, Z., Lang, A. E., Klein, C., Weissbach, A., Mellick, G. D., Silburn, P. A., Hadjigeorgiou, G. M., Dardiotis, E., Hattori, N., Ogaki, K., Tan, E. -K, Zhao, Y., Aasly, J., Valente, E. M., Petrucci, S., Annesi, G., Quattrone, A., Ferrarese, C., Brighina, L., Deutschländer, A., Andreas Puschmann, Nilsson, C., Garraux, G., Ledoux, M. S., Pfeiffer, R. F., Boczarska-Jedynak, M., Opala, G., Maraganore, D. M., Engelborghs, S., Deyn, P. P., Cras, P., Cruts, M., and Broeckhoven, C.

193. The second greek–israeli symposium on autoimmunity and rheumatology: Success through synergy

Author

Sakkas, L. I., Bogdanos, D. P., Boumpas, D., Mamouris, Z., Gkoutzourelas, A., ATHANASIOS MAVROPOULOS, Tsouris, Z., Liossis, S. -N, Daoussis, D., Vasilopoulos, D., Tektonidou, M., Tzioufas, A., Efthymiou, G., Dardiotis, E., Kitas, G., Sharif, K., Blank, M., Karussis, D., Rimar, D., Slobodin, G., Porat-Katz, B. -S, Vadasz, Z., Amital, H., Toubi, E., and Shoenfeld, Y.

195. 37th International Symposium on Intensive Care and Emergency Medicine (part 2 of 3)

Author

Rob, D., Špunda, R., Lindner, J., Šmalcová, J., Šmíd, O., Kovárník, T., Linhart, A., Bìlohlávek, J., Marinoni, M. M., Cianchi, G., Trapani, S., Migliaccio, M. L., Gucci, L., Bonizzoli, M., Cramaro, A., Cozzolino, M., Valente, S., Peris, A., Grins, E., Kort, E., Weiland, M., Shresta, N. Manandhar, Davidson, P., Algotsson, L., Fitch, S., Marco, G., Sturgill, J., Lee, S., Dickinson, M., Boeve, T., Khaghani, A., Wilton, P., Jovinge, S., Ahmad, A. N., Loveridge, R., Vlachos, S., Patel, S., Gelandt, E., Morgan, L., Butt, S., Whitehorne, M., Kakar, V., Park, C., Hayes, M., Willars, C., Hurst, T., Best, T., Vercueil, A., Auzinger, G., Adibelli, B., Akovali, N., Torgay, A., Zeyneloglu, P., Pirat, A., Kayhan, Z., Schmidbauer, S. S., Herlitz, J., Karlsson, T., Friberg, H., Knafelj, R., Radsel, P., Duprez, F., Bonus, T., Cuvelier, G., Mashayekhi, S., Maka, M., Ollieuz, S., Reychler, G., Mosaddegh, R., Abbasi, S., Talaee, S., Zotzmann, V. Z., Staudacher, D. S., Wengenmayer, T. W., Dürschmied, D. D., Bode, C. B., Nelskylä, A., Nurmi, J., Jousi, M., Schramko, A., Mervaala, E., Ristagno, G., Skrifvars, M., Ozsoy, G., Kendirli, T., Azapagasi, E., Perk, O., Gadirova, U., Ozcinar, E., Cakici, M., Baran, C., Durdu, S., Uysalel, A., Dogan, M., Ramoglu, M., Ucar, T., Tutar, E., Atalay, S., Akar, R., Kamps, M., Leeuwerink, G., Hofmeijer, J., Hoiting, O., Van der Hoeven, J., Hoedemaekers, C., Konkayev, A., Kuklin, V., Kondratyev, T., Konkayeva, M., Akhatov, N., Sovershaev, M., Tveita, T., Dahl, V., Wihersaari, L., Skrifvars, M. B., Bendel, S., Kaukonen, K. M., Vaahersalo, J., Romppanen, J., Pettilä, V., Reinikainen, M., Lybeck, A., Cronberg, T., Nielsen, N., Rauber, M., Steblovnik, K., Jazbec, A., Noc, M., Kalasbail, P., Garrett, F., Kulstad, E., Bergström, D. J., Olsson, H. R., Schmidbauer, S., Mandel, I., Mikheev, S., Podoxenov, Y., Suhodolo, I., Podoxenov, A., Svirko, J., Sementsov, A., Maslov, L., Shipulin, V., Vammen, L. V., Rahbek, S. R., Secher, N. S., Povlsen, J. P., Jessen, N. J., Løfgren, B. L., Granfeldt, A. G., Grossestreuer, A., Perman, S., Patel, P., Ganley, S., Portmann, J., Cocchi, M., Donnino, M., Nassar, Y., Fathy, S., Gaber, A., Mokhtar, S., Chia, Y. C., Lewis-Cuthbertson, R., Mustafa, K., Sabra, A., Evans, A., Bennett, P., Eertmans, W., Genbrugge, C., Boer, W., Dens, J., De Deyne, C., Jans, F., Skorko, A., Thomas, M., Casadio, M., Coppo, A., Vargiolu, A., Villa, J., Rota, M., Avalli, L., Citerio, G., Moon, J. B., Cho, J. H., Park, C. W., Ohk, T. G., Shin, M. C., Won, M. H., Papamichalis, P., Zisopoulou, V., Dardiotis, E., Karagiannis, S., Papadopoulos, D., Zafeiridis, T., Babalis, D., Skoura, A., Staikos, I., Komnos, A., Passos, S. Silva, Maeda, F., Souza, L. Silva, Filho, A. Amato, Granjeia, T. Araújo Guerra, Schweller, M., Franci, D., De Carvalho Filho, M., Santos, T. Martins, De Azevedo, P., Wall, R., Welters, I., Tansuwannarat, P., Sanguanwit, P., Langer, T., Carbonara, M., Caccioppola, A., Fusarini, C. Ferraris, Carlesso, E., Paradiso, E., Battistini, M., Cattaneo, E., Zadek, F., Maiavacca, R., Stocchetti, N., Pesenti, A., Ramos, A., Acharta, F., Toledo, J., Perezlindo, M., Lovesio, L., Dogliotti, A., Lovesio, C., Schroten, N., Van der Veen, B., De Vries, M. C., Veenstra, J., Abulhasan, Y. B., Rachel, S., Châtillon-Angle, M., Alabdulraheem, N., Schiller, I., Dendukuri, N., Angle, M., Frenette, C., Lahiri, S., Schlick, K., Mayer, S. A., Lyden, P., Akatsuka, M., Arakawa, J., Yamakage, M., Rubio, J., Mateo-Sidron, J. A. Rubio, Sierra, R., Celaya, M., Benitez, L., Alvarez-Ossorio, S., Fernandez, A., Gonzalez, O., Engquist, H., Rostami, E., Enblad, P., Canullo, L., Nallino, J., Perreault, M., Talic, J., Frenette, A. J., Burry, L., Bernard, F., Williamson, D. R., Adukauskiene, D., Cyziute, J., Adukauskaite, A., Malciene, L., Luca, L., Rogobete, A., Bedreag, O., Papurica, M., Sarandan, M., Cradigati, C., Popovici, S., Vernic, C., Sandesc, D., Avakov, V., Shakhova, I., Trimmel, H., Majdan, M., Herzer, G. H., Sokoloff, C. S., Albert, M., Williamson, D., Odier, C., Giguère, J., Charbonney, E., Husti, Z., Kaptás, T., Fülep, Z., Gaál, Z., Tusa, M., Donnelly, J., Aries, M., Czosnyka, M., Robba, C., Liu, M., Ercole, A., Menon, D., Hutchinson, P., Smielewski, P., López, R., Graf, J., Montes, J. M., Kenawi, M., Kandil, A., Husein, K., Samir, A., Heijneman, J., Huijben, J., Abid-Ali, F., Stolk, M., Van Bommel, J., Lingsma, H., Van der Jagt, M., Cihlar, R. C., Mancino, G., Bertini, P., Forfori, F., Guarracino, F., Pavelescu, D., Grintescu, I., Mirea, L., Alamri, S., Tharwat, M., Kono, N., Okamoto, H., Uchino, H., Ikegami, T., Fukuoka, T., Simoes, M., Trigo, E., Coutinho, P., Pimentel, J., Franci, A., Basagni, D., Boddi, M., Anichini, V., Cecchi, A., Markopoulou, D., Venetsanou, K., Papanikolaou, I., Barkouri, T., Chroni, D., Alamanos, I., Cingolani, E., Bocci, M. G., Pisapia, L., Tersali, A., Cutuli, S. L., Fiore, V., Palma, A., Nardi, G., Antonelli, M., Coke, R., Kwong, A., Dwivedi, D. J., Xu, M., McDonald, E., Marshall, J. C., Fox-Robichaud, A. E., Liaw, P. C., Kuchynska, I., Malysh, I. R., Zgrzheblovska, L. V., Mestdagh, L., Verhoeven, E. F., Hubloue, I., Ruel-laliberte, J., Zarychanski, R., Lauzier, F., Bonaventure, P. Lessard, Green, R., Griesdale, D., Fowler, R., Kramer, A., Zygun, D., Walsh, T., Stanworth, S., Léger, C., Turgeon, A. F., Baron, D. M., Baron-Stefaniak, J., Leitner, G. C., Ullrich, R., Tarabrin, O., Mazurenko, A., Potapchuk, Y., Sazhyn, D., Tarabrin, P., Pérez, A. González, Silva, J., Artemenko, V., Bugaev, A., Tokar, I., Konashevskaya, S., Kolesnikova, I. M., Roitman, E. V., Kiss, T. Rengeiné, Máthé, Z., Piros, L., Dinya, E., Tihanyi, E., Smudla, A., Fazakas, J., Ubbink, R., Boekhorst te, P., Mik, E., Caneva, L., Ticozzelli, G., Pirrelli, S., Passador, D., Riccardi, F., Ferrari, F., Roldi, E. M., Di Matteo, M., Bianchi, I., Iotti, G. A., Zurauskaite, G., Voegeli, A., Meier, M., Koch, D., Haubitz, S., Kutz, A., Bargetzi, M., Mueller, B., Schuetz, P., Von Meijenfeldt, G., Van der Laan, M., Zeebregts, C., Christopher, K. B., Vernikos, P., Melissopoulou, T., Kanellopoulou, G., Panoutsopoulou, M., Xanthis, D., Kolovou, K., Kypraiou, T., Floros, J., Broady, H., Pritchett, C., Marshman, M., Jannaway, N., Ralph, C., Lehane, C. L., Keyl, C. K., Zimmer, E. Z., Trenk, D. T., Ducloy-Bouthors, A. S., Jonard, M. J., Fourrier, F., Piza, F., Correa, T., Marra, A., Guerra, J., Rodrigues, R., Vilarinho, A., Aranda, V., Shiramizo, S., Lima, M. R., Kallas, E., Cavalcanti, A. B., Donoso, M., Vargas, P., McCartney, J., Ramsay, S., McDowall, K., Novitzky-Basso, I., Wright, C., Medic, M Grgic, Bielen, L, Radonic, V, Zlopasa, O, Vrdoljak, N Gubarev, Gasparovic, V, Radonic, R, Narváez, G., Cabestrero, D., Rey, L., Aroca, M., Gallego, S., Higuera, J., De Pablo, R., González, L. Rey, Chávez, G. Narváez, Lucas, J. Higuera, Alonso, D. Cabestrero, Ruiz, M. Aroca, Valarezo, L. Jaramillo, De Pablo Sánchez, R., Real, A. Quinza, Wigmore, T. W., Bendavid, I., Cohen, J., Avisar, I., Serov, I., Kagan, I., Singer, P., Hanison, J, Mirza, U, Conway, D, Takasu, A., Tanaka, H., Otani, N., Ohde, S., Ishimatsu, S., Coffey, F, Dissmann, P, Mirza, K, Lomax, M, Dissmann, P., Coffey, F., Mirza, K., Lomax, M., Miner, JR, Leto, R, Markota, AM, Gradišek, PG, Aleksejev, VA, Sinkovič, AS, Romagnoli, S., Chelazzi, C., Zagli, G., Benvenuti, F., Mancinelli, P., Boninsegni, P., Paparella, L., Bos, A. T., Thomas, O., Goslar, T., Martone, A., Sandu, P. R., Rosu, V. A., Capilnean, A., Murgoi, P., Lecavalier, A., Jayaraman, D., Rico, P., Bellemare, P., Gelinas, C., Nishida, T., Kinoshita, T., Iwata, N., Yamakawa, K., Fujimi, S., Maggi, L., Sposato, F., Citterio, G., Bonarrigo, C., Rocco, M., Zani, V., De Blasi, R. A., Alcorn, D, Barry, L, Riedijk, M. A., Milstein, D. M., Caldas, J., Panerai, R., Camara, L., Ferreira, G., Bor-Seng-Shu, E., Lima, M., Galas, F., Mian, N., Nogueira, R., de Oliveira, G. Queiroz, Almeida, J., Jardim, J., Robinson, T. G., Gaioto, F., Hajjar, L. A., Zabolotskikh, I., Musaeva, T., Saasouh, W., Freeman, J., Turan, A., Saseedharan, S., Pathrose, E., Poojary, S., Messika, J., Martin, Y., Maquigneau, N., Henry-Lagarrigue, M., Puechberty, C., Stoclin, A., Martin-Lefevre, L., Blot, F., Dreyfuss, D., Dechanet, A., Hajage, D., Ricard, J., Almeida, E., Landoni, G., Fukushima, J., Fominskiy, E., De Brito, C., Cavichio, L., Almeida, L., Ribeiro, U., Osawa, E., Boltes, R., Battistella, L., Hajjar, L., Fontela, P., Lisboa, T., Junior, L. Forgiarini, Friedman, G. F., Abruzzi, F., Primo, J. Azevedo Peixoto, Filho, P. Marques, de Andrade, J. Stormorvski, Brenner, K. Matos, boeira, M. Scorsato, Leães, C., Rodrigues, C., Vessozi, A., Machado, A. SantAnna, Weiler, M., Bryce, H., Hudson, A., Law, T., Reece-Anthony, R., Molokhia, A., Abtahinezhadmoghaddam, F., Cumber, E., Channon, L., Wong, A., Groome, R., Gearon, D., Varley, J., Wilson, A., Reading, J., Zampieri, F. G., Bozza, F. A., Ferez, M., Fernandes, H., Japiassú, A., Verdeal, J., Carvalho, A. C., Knibel, M., Salluh, J. I., Soares, M., Gao, J., Ahmadnia, E., Patel, B., MacKay, A., Binning, S., Pugh, R. J., Battle, C., Hancock, C., Harrison, W., Szakmany, T., Mulders, F., Vandenbrande, J., Dubois, J., Stessel, B., Siborgs, K., Ramaekers, D., Silva, U. V., Homena, W. S., Fernandes, G. C., Moraes, A. P., Brauer, L., Lima, M. F., De Marco, F., Maric, N., Mackovic, M., Udiljak, N., Bosso, CE, Caetano, RD, Cardoso, AP, Souza, OA, Pena, R, Mescolotte, MM, Souza, IA, Mescolotte, GM, Bangalore, H., Borrows, E., Barnes, D., Ferreira, V., Azevedo, L., Alencar, G., Andrade, A., Bierrenbach, A., Buoninsegni, L. Tadini, Cecci, L., Lindskog, J., Rowland, K., Sturgess, P., Ankuli, A., Rosa, R, Tonietto, T, Ascoli, A, Madeira, L, Rutzen, W, Falavigna, M, Robinson, C, Salluh, J, Cavalcanti, A, Azevedo, L, Cremonese, R, Da Silva, D, Dornelles, A, Skrobik, Y, Teles, J, Ribeiro, T, Eugênio, C, Teixeira, C, Zarei, M., Hashemizadeh, H., Eriksson, M., Strandberg, G., Lipcsey, M., Larsson, A., Lignos, M., Crissanthopoulou, E., Flevari, K., Dimopoulos, P., Armaganidis, A., Golub, JG, Stožer, AS, Rüddel, H., Ehrlich, C., Burghold, C. M., Hohenstein, C., Winning, J., Sellami, W., Hajjej, Z., Bousselmi, M., Gharsallah, H., Labbene, I., Ferjani, M., Sattler, J., Steinbrunner, D., Poppert, H., Schneider, G., Blobner, M., Kanz, K. G., Schaller, S. J., Apap, K., Xuereb, G., Massa, L., Delvau, N., Penaloza, A, Liistro, G, Thys, F, Delattre, I. K., Hantson, P., Roy, P. M., Gianello, P., Hadîrcă, L, Ghidirimschi, A, Catanoi, N, Scurtov, N, Bagrinovschi, M, Sohn, Y. S., Cho, Y. C., Golovin, B., Creciun, O., Ghidirimschi, A., Bagrinovschi, M., Tabbara, R., Whitgift, J. Z., Ishimaru, A., Yaguchi, A., Akiduki, N., Namiki, M., Takeda, M., Tamminen, J. N., Uusaro, A., Taylor, C. G., Mills, E. D., Mackay, A. D., Ponzoni, C., Rabello, R., Serpa, A., Assunção, M., Pardini, A., Shettino, G., Corrêa, T., Vidal-Cortés, P. V., Álvarez-Rocha, L., Fernández-Ugidos, P., Virgós-Pedreira, A., Pérez-Veloso, M. A., Suárez-Paul, I. M., Del Río-Carbajo, L., Fernández, S. Pita, Castro-Iglesias, A., Butt, A., Alghabban, A. A., Khurshid, S. K., Ali, Z. A., Nizami, I. N., Salahuddin, N. S., Alshahrani, M., Alsubaie, A. W., Alshamsy, A. S., Alkhiliwi, B. A., Alshammari, H. K., Alshammari, M. B., Telmesani, N. K., Alshammari, R. B., Asonto, L. P., Damiani, L. P., Bozza, F, El Khattate, A., Bizrane, M., Madani, N., Belayachi, J., Abouqal, R., Ramnarain, D., Gouw-Donders, B., Benstoem, C., Moza, A., Meybohm, P., Stoppe, C., Autschbach, R., Devane, D., Goetzenich, A., Taniguchi, L. U., Araujo, L., Salgado, G., Vieira, J. M., Viana, J., Ziviani, N., Pessach, I., Lipsky, A., Nimrod, A., O´Connor, M., Matot, I., Segal, E., Kluzik, A., Gradys, A., Smuszkiewicz, P., Trojanowska, I., Cybulski, M., De Jong, A., Sebbane, M., Chanques, G., Jaber, S., Rosa, R., Robinson, C., Bessel, M., Cavalheiro, L., Madeira, L., Rutzen, W., Oliveira, R., Maccari, J., Falavigna, M., Sanchez, E., Dutra, F., Dietrich, C., Balzano, P., Rezende, J., Teixeira, C., Sinha, S., Majhi, K., Gorlicki, J. G., Pousset, F. P., Kelly, J., Aron, J., Gilbert, A. Crerar, Urankar, N. Prevec, Irazabal, M., Bosque, M., Manciño, J., Kotsopoulos, A., Jansen, N., Abdo, W., Casey, Ú. M., O’Brien, B., Plant, R., and Doyle, B.

Subjects
Critical Care and Intensive Care Medicine, Meeting Abstracts
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196. Perimetric and retinal nerve fiber layer findings in patients with Parkinson’s disease

Author

Tsironi Evangelia E, Dastiridou Anna, Katsanos Andreas, Dardiotis Efthymios, Veliki Stella, Patramani Gianna, Zacharaki Fani, Ralli Stella, and Hadjigeorgiou Georgios M

Subjects
Visual loss, Visual fields, Parkinson's disease, Retina, Visual processing, Ophthalmology, RE1-994
Abstract

Abstract Background Visual dysfunction is common in Parkinson’s disease (PD). It remains, however, unknown whether it is related to structural alterations of the retina. The aim of this study is to compare visual field (VF) findings and circumpapillary retinal nerve fiber layer (RNFL) thickness in a series of PD patients and normal controls, in order to assess possible retinal anatomical changes and/or functional damage associated with PD. Methods PD patients and controls were recruited and underwent VF testing with static automated perimetry and RNFL examination with optical coherence tomography (OCT). Cognitive performance using Mini Mental State Examination (MMSE), PD staging using modified Hoehn and Yahr (H-Y) scale and duration of the disease was recorded in PD patients. Results One randomly selected eye from each of 24 patients and 24 age-matched controls was included. OCT RNFL thickness analysis revealed no difference in the inferior, superior, nasal or temporal sectors between the groups. The average peripapillary RNFL was also similar in the two groups. However, perimetric indices of generalized sensitivity loss (mean deviation) and localized scotomas (pattern standard deviation) were worse in patients with PD compared to controls (p Conclusion PD patients may demonstrate glaucomatous-like perimetric defects even in the absence of decreased RNFL thickness.

Published
2012
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197. Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients

Author

Hadjigeorgiou George M, Papadimitriou Alexandros, Peuralinna Terhi, Dardiotis Euthimios, Hellström Olli, Gourbali Vanesa, Eerola Johanna, Xiromerisiou Georgia, Clarimon Jordi, Tienari Pentti J, and Singleton Andrew B

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Fibroblast growth factor 20 (FGF20) is a neurotrophic factor preferentially expressed in the substantia nigra of rat brain and could be involved in dopaminergic neurons survival. Recently, a strong genetic association has been found between FGF20 gene and the risk of suffering from Parkinson's disease (PD). Our aim was to replicate this association in two independent populations. Methods Allelic, genotypic, and haplotype frequencies of four biallelic polymorphisms were assessed in 151 sporadic PD cases and 186 controls from Greece, and 144 sporadic PD patients and 135 controls from Finland. Results No association was found in any of the populations studied. Conclusion Taken together, these findings suggest that common genetic variants in FGF20 are not a risk factor for PD in, at least, some European populations.

Published
2005
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198. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

Subjects
Male, Als gene, Genome-wide association study, FAMILIAL ALS, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, 0302 clinical medicine, 80 and over, Psychology, Aetiology, Aged, 80 and over, 0303 health sciences, French ALS Consortium, Kinesin, KINESIN HEAVY-CHAIN, Cognitive Sciences, Human, Hereditary spastic paraplegia, Neuroscience(all), Single-nucleotide polymorphism, TARGETED DISRUPTION, Article, 03 medical and health sciences, Genetics, Humans, Amino Acid Sequence, Loss function, Aged, HEXANUCLEOTIDE REPEAT, Neuroscience (all), MUTATIONS, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, 1702 Cognitive Science, medicine.disease, ITALSGEN Consortium, Answer ALS Foundation, 030104 developmental biology, ALS Sequencing Consortium, Human medicine, 1109 Neurosciences, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV]Life Sciences [q-bio], Kinesins, Neurodegenerative, Genetic analysis, Genome, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Cohort Studies, Pathogenesis, Loss of Function Mutation, Missense mutation, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, NYGC ALS Consortium, General Neuroscience, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, Middle Aged, Phenotype, Settore MED/26 - NEUROLOGIA, Neurological, Project MinE ALS Sequencing Consortium, Female, Adult, Biology, GENOTYPE IMPUTATION, Genome-Wide Association Study, Young Adult, NO, Rare Diseases, medicine, SLAGEN Consortium, Gene, 030304 developmental biology, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Neurology & Neurosurgery, Human Genome, Neurosciences, AXONAL-TRANSPORT, Brain Disorders, Family member, DNA-DAMAGE, MOTOR-NEURONS, 3111 Biomedicine, Cohort Studie, Genomic Translation for ALS Care (GTAC) Consortium, Amyotrophic Lateral Sclerosi
Abstract

© 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Published
2018
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199. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease

Author

Athina Simitsi, Grazia Annesi, Hirotaka Matsuo, Leonor Correia Guedes, Mario Ezquerra, Kenya Nishioka, Ashwin Ashok Kumar Sreelatha, Simona Petrucci, Dimitri Krainc, Angela Deutschländer, Ekaterina Rogaeva, Lasse Pihlstrøm, Manu Sharma, Thomas Gasser, Mathias Toft, Jan O. Aasly, Cloé Domenighetti, Monica Diez-Fairen, Milena Radivojkov-Blagojevic, Sandeep Grover, Andrew B. Singleton, Bart P.C. van de Warrenburg, Yun Joong Kim, Andrea Quattrone, Sun Ju Chung, Gianni Pezzoli, Pierre-Emmanuel Sugier, Sulev Kõks, Lena F. Burbulla, Jonathan Carr, Walter Pirker, Efthimos Dardiotis, Karin Wirdefeldt, George D. Mellick, Jean-Christophe Corvol, Dheeraj Reddy Bobbili, Anthony E. Lang, Eugénie Mutez, Georges M. Hadjigeorgiou, Anna Zecchinelli, Laura Brighina, Connor Edsall, Océane Mohamed, Berta Portugal, Andreas Puschmann, Nancy L. Pedersen, Alexander Zimprich, Patrick May, Matthew J. Farrer, Leonidas Stefanis, Yusuke Kawamura, Eduardo Tolosa, Claudia Schulte, Alexis Brice, Caroline Ran, Manuela Tan, Pille Taba, Peter Lichtner, Alexis Elbaz, Dena G. Hernandez, Monica Gagliardi, Andrea Carmine Belin, Joaquim J. Ferreira, Suzanne Lesage, Pierre Kolber, Kathrin Brockmann, Marie-Christine Chartier-Harlin, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Stefano Duga, Letizia Straniero, Rejko Krüger, Carlo Ferrarese, Pau Pastor, Soraya Bardien, Clara Hellberg, Bastiaan R. Bloem, Enza Maria Valente, Domenighetti, C, Sugier, P, Sreelatha, A, Schulte, C, Grover, S, Mohamed, O, Portugal, B, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Duga, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Kawamura, Y, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, Van De Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Hellberg, C, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, and Elbaz, A

Subjects
Inverse Association, Parkinson's disease, parkinson’s disease, Alcohol Drinking, coffee, Alcohol, Disease, epidemiology [Alcohol Drinking], Coffee, Article, Cellular and Molecular Neuroscience, symbols.namesake, chemistry.chemical_compound, genetics [Parkinson Disease], Risk Factors, epidemiology [Smoking], Humans, Medicine, ddc:610, Coffee drinking, Aged, alcohol, business.industry, Smoking, Confounding, Parkinson Disease, Odds ratio, Mendelian Randomization Analysis, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, mendelian randomisation, chemistry, genetics [Alcohol Drinking], Parkinson’s disease, smoking, aged, alcohol drinking, genome-wide association study, humans, mendelian randomization analysis, risk factors, parkinson disease, Mendelian inheritance, symbols, etiology [Parkinson Disease], Neurology (clinical), business, Genome-Wide Association Study, Demography
Abstract

Contains fulltext : 248871.pdf (Publisher’s version ) (Open Access) BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. OBJECTIVE: To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. METHODS: We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). RESULTS: We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60-0.93, p = 0.009) without significant directional pleiotropy. Associations in participants ≤67 years old and cases with disease duration ≤7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. CONCLUSION: Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power.

Published
2022
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200. Restless legs syndrome does not affect 3-year mortality in hemodialysis patients.

Author

Stefanidis, I., Vainas, A., Giannaki, C.D., Dardiotis, E., Spanoulis, A., Sounidaki, M., Eleftheriadis, T., Liakopoulos, V., Karatzaferi, C., Sakkas, G.K., Zintzaras, E., and Hadjigeorgiou, G.M.

Subjects
*RESTLESS legs syndrome, *HEMODIALYSIS patients, *DEATH rate, *MEDICAL records, *CHRONIC kidney failure, *PATIENTS
Abstract

Objective Uremic restless legs syndrome (RLS) has been related to an enhanced mortality of hemodialysis (HD) patients. In the general population studies of this association have yielded inconsistent results. The aim of the present study was to re-evaluate the relationship of RLS and mortality in HD patients. Methods We recorded the 3-year mortality in 579 HD patients after assessment for RLS symptoms. This population has been previously evaluated for the prevalence of RLS, according to the essential criteria of the International RLS Study Group. Mortality data were acquired from the national end-stage renal disease registry. Survival probability was calculated by the Kaplan–Meier method and analyzed by the log-rank test. For multivariate survival analysis, we implemented a Cox regression model. Results During the 3-year follow-up, we documented 118 deaths. Mortality was 15.6% in patients with RLS and 22.3% in patients without RLS ( p  =  0.079). According to the Cox regression analysis, there was no significant association between RLS and 3-year mortality, either in an age- and gender-adjusted model (hazard ratio [HR] = 0.772, 95% confidence interval [CI] = 0.488–1.219, p  = 0.267) or in a multivariate adjusted model (HR = 0.667, 95% CI = 0.417–1.069, p  = 0.092). Conclusion Diagnosis of RLS according to the essential criteria of the International RLS Study Group does not seem to influence the 3-year mortality in HD patients. Our findings are in contrast to those in some previous reports, and reinforce the need for further studies of RLS and mortality in HD. [ABSTRACT FROM AUTHOR]

Published
2015
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