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1. Takotsubo cardiomyopathy in Guillain–Barré syndrome

Author

Terayama, Atsushi, Kuwahara, Motoi, Yoshikawa, Keisuke, Yamagishi, Yuko, Samukawa, Makoto, Yamashita, Shoko, Onishi, Kyohei, Nagano, Tomoya, Tatsumi, Chikao, Ishii, Junko, Kawamoto, Michi, Tokashiki, Takashi, Deguchi, Shoko, Deguchi, Kentaro, Ishida, Atsushi, Baba, Yasuhiko, Yamaguchi, Shigeki, Kusunoki, Susumu, and Nagai, Yoshitaka

Published
2024
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4. DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Author

Terasaki, Akane, Nakamura, Masayuki, Urata, Yuka, Hiwatashi, Hanae, Yokoyama, Izumi, Yasuda, Takeshi, Onuma, Teiichi, Wada, Kazumaru, Kaneko, Sunao, Kan, Rumiko, Niwa, Shin-ichi, Hashimoto, Ohiko, Komure, Osamu, Goto, Yu-ichi, Yamagishi, Yuko, Nakano, Misa, Furusawa, Yoshihiko, and Sano, Akira

Published
2021
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5. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James AL, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny PA, Gilhuis, H Jacobus, Hadden, Robert DM, Holt, James KL, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel PJ, Straathof, Chiara SM, Gorson, Kenneth C, and Jacobs, Bart C

Published
2021
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6. Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Author

Terasaki, Akane, Nakamura, Masayuki, Urata, Yuka, Hiwatashi, Hanae, Yokoyama, Izumi, Yasuda, Takeshi, Onuma, Teiichi, Wada, Kazumaru, Kaneko, Sunao, Kan, Rumiko, Niwa, Shin-ichi, Hashimoto, Ohiko, Komure, Osamu, Goto, Yu-ichi, Yamagishi, Yuko, Nakano, Misa, Furusawa, Yoshihiko, and Sano, Akira

Published
2021
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9. Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome

Author

Luijten, Linda W G, primary, Doets, Alex Y, additional, Arends, Samuel, additional, Dimachkie, Mazen M, additional, Gorson, Kenneth C, additional, Islam, Badrul, additional, Kolb, Noah A, additional, Kusunoki, Susumu, additional, Papri, Nowshin, additional, Waheed, Waqar, additional, Walgaard, Christa, additional, Yamagishi, Yuko, additional, Lingsma, Hester, additional, and Jacobs, Bart C, additional

Published
2022
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11. International Validation of the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score

Author

Doets, Alex Y., Walgaard, Christa, Lingsma, Hester F., Islam, Badrul, Papri, Nowshin, Yamagishi, Yuko, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Gorson, Kenneth C., Jacobs, Bart C., Doets, Alex Y., Walgaard, Christa, Lingsma, Hester F., Islam, Badrul, Papri, Nowshin, Yamagishi, Yuko, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Gorson, Kenneth C., and Jacobs, Bart C.

Abstract

Objective: This study aimed to validate the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score in the International Guillain–Barré Syndrome Outcome Study cohort, and to improve its performance and region-specificity. Methods: We examined data from the first 1,500 included patients, aged ≥6 years and not ventilated prior to study entry. Patients with a clinical variant or mild symptoms were also included. Outcome was mechanical ventilation within the first week from study entry. Model performance was assessed regarding the discriminative ability (area under the receiver operating characteristic curve) and the calibration (observed vs predicted probability of mechanical ventilation), in the full cohort and in Europe/North America and Asia separately. We recalibrated the model to improve its performance and region-specificity. Results: In the group of 1,023 eligible patients (Europe/North America n = 842, Asia n = 104, other n = 77), 104 (10%) required mechanical ventilation within the first week from study entry. Area under the curve values were ≥0.80 for all validation subgroups. Mean observed proportions of mechanical ventilation were lower than predicted risks: full cohort 10% versus 21%, Europe/North America 9% versus 21%, and Asia 17% versus 23%. After recalibration, predicted risks for the full cohort and Europe/North America corresponded to observed proportions. Interpretation: This prospective, international cohort study validated the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score, and showed that the model can be used in the full spectrum of Guillain–Barré syndrome patients. In addition, a more accurate, region-specific version of the model was developed for patients from Europe/North America. ANN NEUROL 2022;91:521–531.

Published
2022

12. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, Jacobs, Bart C, Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, and Jacobs, Bart C

Abstract

Background and objectives: The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods: We used prospective data from the first 1,500 patients included in IGOS, aged ≥6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results: For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion: mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with

Published
2022

13. International validation of the Erasmus GBS Respiratory Insufficiency Score

Author

Doets, A, Walgaard, C, Lingsma, H, Islam, B, Papri, N, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Gorson, K, Jacobs, B, Cavaletti, G, Doets, Alex Y, Walgaard, Christa, Lingsma, Hester F, Islam, Badrul, Papri, Nowshin, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Gorson, Kenneth C, Jacobs, Bart C, Cavaletti, Guido, Doets, A, Walgaard, C, Lingsma, H, Islam, B, Papri, N, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Gorson, K, Jacobs, B, Cavaletti, G, Doets, Alex Y, Walgaard, Christa, Lingsma, Hester F, Islam, Badrul, Papri, Nowshin, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Gorson, Kenneth C, Jacobs, Bart C, and Cavaletti, Guido

Abstract

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

Published
2022

14. Predicting Outcome in Guillain-Barré Syndrome International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A.L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Sedano Tous, María J., Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Samijn, Johnny P.A., van Dijk, Gert W., Jacobs, Bart C., Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A.L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Sedano Tous, María J., Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Samijn, Johnny P.A., van Dijk, Gert W., and Jacobs, Bart C.

Abstract

Background and Objectives The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods We used prospective data from the first 1,500 patients included in IGOS, aged ≥6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with GB

Published
2022

15. Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome.

Author

Luijten, Linda W. G., Doets, Alex Y., Arends, Samuel, Dimachkie, Mazen M., Gorson, Kenneth C., Islam, Badrul, Kolb, Noah A., Susumu Kusunoki, Papri, Nowshin, Waheed, Waqar, Walgaard, Christa, Yuko Yamagishi, Lingsma, Hester, Jacobs, Bart C., Kusunoki, Susumu, Yamagishi, Yuko, and IGOS Consortium

Subjects
RESPIRATORY insufficiency, GUILLAIN-Barre syndrome, ARTIFICIAL respiration, MYCOPLASMA pneumoniae infections, CHRONIC inflammatory demyelinating polyradiculoneuropathy, CEREBROSPINAL fluid examination
Abstract

Background: This study aimed to determine the clinical and diagnostic factors associated with mechanical ventilation (MV) in Guillain-Barré syndrome (GBS) and to simplify the existing Erasmus GBS Respiratory Insufficiency Score (EGRIS) for predicting the risk of MV.Methods: Data from the first 1500 patients included in the prospective International GBS Outcome Study (IGOS) were used. Patients were included across five continents. Patients <6 years and patients from Bangladesh were excluded. Univariable logistic and multivariable Cox regression were used to determine which prespecified clinical and diagnostic characteristics were associated with MV and to predict the risk of MV at multiple time points during disease course.Results: 1133 (76%) patients met the study criteria. Independent predictors of MV were a shorter time from onset of weakness until admission, the presence of bulbar palsy and weakness of neck flexion and hip flexion. The modified EGRIS (mEGRIS) was based on these factors and accurately predicts the risk of MV with an area under the curve (AUC) of 0.84 (0.80-0.88). We internally validated the model within the full IGOS cohort and within separate regional subgroups, which showed AUC values of 0.83 (0.81-0.88) and 0.85 (0.72-0.98), respectively.Conclusions: The mEGRIS is a simple and accurate tool for predicting the risk of MV in GBS. Compared with the original model, the mEGRIS requires less information for predictions with equal accuracy, can be used to predict MV at multiple time points and is also applicable in less severely affected patients and GBS variants. Model performance was consistent across different regions. [ABSTRACT FROM AUTHOR]

Published
2023
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16. International validation of the Erasmus GBS Respiratory Insufficiency Score

Author

Doets, Alex Y, Walgaard, Christa, Lingsma, Hester F, Islam, Badrul, Papri, Nowshin, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Gorson, Kenneth C, Jacobs, Bart C, Cavaletti, Guido, Doets, A, Walgaard, C, Lingsma, H, Islam, B, Papri, N, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Gorson, K, Jacobs, B, and Cavaletti, G

Subjects
IGOS, Guillain-Barrè, respiratory insufficiency, score
Abstract

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

Published
2022

19. Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Author

Terasaki, Akane, primary, Nakamura, Masayuki, additional, Urata, Yuka, additional, Hiwatashi, Hanae, additional, Yokoyama, Izumi, additional, Yasuda, Takeshi, additional, Onuma, Teiichi, additional, Wada, Kazumaru, additional, Kaneko, Sunao, additional, Kan, Rumiko, additional, Niwa, Shin-ichi, additional, Hashimoto, Ohiko, additional, Komure, Osamu, additional, Goto, Yu-ichi, additional, Yamagishi, Yuko, additional, Nakano, Misa, additional, Furusawa, Yoshihiko, additional, and Sano, Akira, additional

Published
2020
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21. Serum IgG anti-GD1a antibody and mEGOS predict outcome in Guillain-Barré syndrome

Author

Yamagishi, Yuko, primary, Kuwahara, Motoi, additional, Suzuki, Hidekazu, additional, Sonoo, Masahiro, additional, Kuwabara, Satoshi, additional, Yokota, Takanori, additional, Nomura, Kyoichi, additional, Chiba, Atsuro, additional, Kaji, Ryuji, additional, Kanda, Takashi, additional, Kaida, Ken-ichi, additional, Mutoh, Tatsuro, additional, Yamasaki, Ryo, additional, Takashima, Hiroshi, additional, Matsui, Makoto, additional, Nishiyama, Kazutoshi, additional, Sobue, Gen, additional, and Kusunoki, Susumu, additional

Published
2020
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22. DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Author

Terasaki, Akane, primary, Nakamura, Masayuki, additional, Urata, Yuka, additional, Hiwatashi, Hanae, additional, Yokoyama, Izumi, additional, Yasuda, Takeshi, additional, Onuma, Teiichi, additional, Wada, Kazumaru, additional, Kaneko, Sunao, additional, Kan, Rumiko, additional, Niwa, Shin-ichi, additional, Hashimoto, Ohiko, additional, Komure, Osamu, additional, Goto, Yu-ichi, additional, Yamagishi, Yuko, additional, Nakano, Misa, additional, Furusawa, Yoshihiko, additional, and Sano, Akira, additional

Published
2020
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24. Predicting Outcome in Guillain-Barré Syndrome

Author

Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A.L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Sedano Tous, María J., Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A., Visser, Leo H., Katzberg, Hans D., Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J., Eftimov, Filip, Wirtz, Paul W., Samijn, Johnny P.A., Gilhuis, H. Jacobus, Hadden, Robert D.M., Holt, James K.L., Sheikh, Kazim A., Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E., Faber, Catharina G., Gijsbers, Cees J., Busby, Mark, Roberts, Rhys C., Silvestri, Nicholas J., Fazio, Raffaella, van Dijk, Gert W., Garssen, Marcel P.J., Straathof, Chiara S.M., Gorson, Kenneth C., Jacobs, Bart C., Hughes, R.A.C., Cornblath, D.R., Hartung, H.P., van Doorn, P.A., de Koning, L.C., van Woerkom, M., Mandarakas, M., MPhty, BHIthSci(Hons), Reisin, R.C., Reddel, S.W., Ripellino, P., Hsieh, S.T., Addington, J.M., Ajroud-Driss, S., Andersen, H., Badrising, U.A., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Bianco, M., Brannagan, T.H., Briani, Chiara, Butterworth, S., Chao, C.C., Chen, S., Claeys, K.G., Conti, M.E., Cosgrove, J.S., Dalakas, M.C., Dornonville de la Cour, C., Echaniz-Laguna, A., Fehmi, J., Fokke, C., Fujioka, T., Fulgenzi, E.A., García-Sobrino, T., Gilchrist, J.M., Goldstein, J.M., Goyal, N.A., Grisanti, S.G., Gutman, L., Holbech, J.V., Homedes, C., Htut, M., Jellema, K., Pascual, I. Jericó, JimenoMontero, M.C., Kaida, K., Khoshnoodi, M., Kiers, L., Kimpinski, K., Köhler, A.A., Kokubun, N., Kuwahara, M., Kwan, J.Y., Ladha, S.S., Lassen, L. Landschoff, Lawson, V., Pan, E.B. Lee, Cejas, L. Léon, Lunn, M.P.T., Magot, A., Manji, H., Infante, C. Márquez, Martín-Aguilar, L., Hernandez, E. Martinez, Mataluni, G., Mattiazzi, M.G., McDermott, C.J., Meekins, G.D., Morís de la Tassa, G., Nascimbene, C., Nowak, R.J., Osei-Bonsu, M., Pascuzzi, R.M., Prada, V., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samukawa, M., Santoro, L., Savransky, A.G., Schwindling, L., Sekiguchi, Y., Sommer, C.L., Spyropoulos, A., Stein, B., Stino, A.M., Tan, C.Y., Tankisi, H., Twydell, P.T., van Damme, P., van der Ree, T., van Koningsveld, R., Varrato, J.D., Xing, C., Zhou, L., and Zivkovic, S.

Published
2022
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25. Serum IgG anti-GD1a antibody and mEGOS predict outcome in Guillain-Barré syndrome.

Author

Yuko Yamagishi, Motoi Kuwahara, Hidekazu Suzuki, Masahiro Sonoo, Satoshi Kuwabara, Takanori Yokota, Kyoichi Nomura, Atsuro Chiba, Ryuji Kaji, Takashi Kanda, Ken-ichi Kaida, Tatsuro Mutoh, Ryo Yamasaki, Hiroshi Takashima, Makoto Matsui, Kazutoshi Nishiyama, Gen Sobue, Susumu Kusunoki, Yamagishi, Yuko, and Kuwahara, Motoi

Subjects
GUILLAIN-Barre syndrome, SERUM, IMMUNOGLOBULINS, GANGLIOSIDES, SYMPTOMS, TREATMENT of Guillain-Barre syndrome, AUTOANTIBODIES, ELECTRODIAGNOSIS, DIARRHEA, AGE distribution, PROGNOSIS, RETROSPECTIVE studies, ARTIFICIAL respiration, LIPIDS
Abstract

Objective: Approximately 15%-20% of patients with Guillain-Barré syndrome (GBS) are unable to walk independently at 6 months from the onset of neurological symptom. The modified Erasmus GBS outcome score (mEGOS) has been reported as a prognostic tool.Herein we investigated the association between a poor outcome, inability to walk independently at 6 months and presence of antiganglioside antibodies.Methods: The clinical and serological data of 177 patients with GBS were retrospectively collected in Japan to assess the associations between a poor outcome and serum IgG antibodies against each ganglioside (GM1, GD1a, GalNAc-GD1a, GQ1b and GT1a). In addition, we investigated whether the combination of mEGOS and serum IgG antibodies against gangliosides is useful in predicting a poor outcome.Results: The patients with IgG anti-GD1a antibodies more frequently showed poor outcomes than those without these antibodies (9 (36%) of 25 vs 8 (6%) of 127 patients, p<0.001). Particularly, 80% showed a poor outcome when they had both serum IgG anti-GD1a antibody and a high mEGOS of ≥10 on day 7 of admission.Conclusions: The combination of serum IgG anti-GD1a antibodies and a high mEGOS could help in making a more accurate prognosis of patients than mEGOS alone, especially for predicting poor outcomes. [ABSTRACT FROM AUTHOR]

Published
2020
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26. Diagnosis of Parkinson’s disease and the level of oxidized DJ-1 protein

Author

Yamagishi, Yuko, primary, Saigoh, Kazumasa, additional, Saito, Yoshiro, additional, Ogawa, Ikuko, additional, Mitsui, Yoshiyuki, additional, Hamada, Yukihiro, additional, Samukawa, Makoto, additional, Suzuki, Hidekazu, additional, Kuwahara, Motoi, additional, Hirano, Makito, additional, Noguchi, Noriko, additional, and Kusunoki, Susumu, additional

Published
2018
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27. DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12and the nonpathogenic TTTTA repeat expansion in TNRC6A

Author

Terasaki, Akane, Nakamura, Masayuki, Urata, Yuka, Hiwatashi, Hanae, Yokoyama, Izumi, Yasuda, Takeshi, Onuma, Teiichi, Wada, Kazumaru, Kaneko, Sunao, Kan, Rumiko, Niwa, Shin-ichi, Hashimoto, Ohiko, Komure, Osamu, Goto, Yu-ichi, Yamagishi, Yuko, Nakano, Misa, Furusawa, Yoshihiko, and Sano, Akira

Abstract

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. Recently, intronic expansion of unstable TTTCA/TTTTA pentanucleotide repeats in SAMD12, TNRC6A, or RAPGEF2was identified as pathological mutations in Japanese BAFME pedigrees. To confirm these mutations, we performed a genetic analysis on 12 Japanese BAFME pedigrees. A total of 143 participants, including 43 familial patients, 5 suspected patients, 3 sporadic nonfamilial patients, 22 unaffected familial members, and 70 unrelated controls, were screened for expanded abnormal pentanucleotide repeats in SAMD12, TNRC6A, RAPGEF2, YEAT2, MARCH6, and STARD7. DNA samples were analyzed using Southern blotting, long-range polymerase chain reaction (PCR), repeat-primed PCR, and long-range PCR followed by Southern blotting. Of the 51 individuals with clinically diagnosed or suspected BAFME, 49 carried a SAMD12allele with an expanded TTTCA/TTTTA pentanucleotide repeat. Genetic and clinical anticipation was observed. As in previous reports, the one patient with homozygous mutant alleles showed more severe symptoms than the heterozygous carriers. In addition, screening for expanded pentanucleotide repeats in TNRC6Arevealed that the frequency of expanded TTTTA repeat alleles in the BAFME group was significantly higher than in the control group. All patients who were clinically diagnosed with BAFME, including those in the original family reported by Yasuda, carried abnormally expanded TTTCA/TTTTA repeat alleles of SAMD12. Patients with BAFME also frequently carried a TTTTA repeat expansion in TNRC6A, suggesting that there may be unknown factors in the ancestry of patients with BAFME that make pentanucleotide repeats unstable.

Published
2021
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30. The novel de novomutation of KIF1Agene as the cause for Spastic paraplegia 30 in a Japanese case

Author

Yoshikawa, Keisuke, Kuwahara, Motoi, Saigoh, Kazumasa, Ishiura, Hiroyuki, Yamagishi, Yuko, Hamano, Yuta, Samukawa, Makoto, Suzuki, Hidekazu, Hirano, Makito, Mitsui, Yoshiyuki, Tsuji, Shoji, and Kusunoki, Susumu

Abstract

Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1Areportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease.

Published
2019
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31. Trimacrocyclic arylamine and its polycationic states

Author

Ito, Akihiro, Yamagishi, Yuko, Fukui, Koji, Inoue, Syuuzi, Hirao, Yasukazu, Furukawa, Ko, Kato, Tatsuhisa, Tanaka, Kazuyoshi, Ito, Akihiro, Yamagishi, Yuko, Fukui, Koji, Inoue, Syuuzi, Hirao, Yasukazu, Furukawa, Ko, Kato, Tatsuhisa, and Tanaka, Kazuyoshi

Published
2008

32. Trimacrocyclic arylamine and its polycationic states

Author

90293901, 80175702, 90155119, Ito, Akihiro, Yamagishi, Yuko, Fukui, Koji, Inoue, Syuuzi, Hirao, Yasukazu, Furukawa, Ko, Kato, Tatsuhisa, Tanaka, Kazuyoshi, 90293901, 80175702, 90155119, Ito, Akihiro, Yamagishi, Yuko, Fukui, Koji, Inoue, Syuuzi, Hirao, Yasukazu, Furukawa, Ko, Kato, Tatsuhisa, and Tanaka, Kazuyoshi

Published
2008

34. Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12and the nonpathogenic TTTTA repeat expansion in TNRC6A

Author

Terasaki, Akane, Nakamura, Masayuki, Urata, Yuka, Hiwatashi, Hanae, Yokoyama, Izumi, Yasuda, Takeshi, Onuma, Teiichi, Wada, Kazumaru, Kaneko, Sunao, Kan, Rumiko, Niwa, Shin-ichi, Hashimoto, Ohiko, Komure, Osamu, Goto, Yu-ichi, Yamagishi, Yuko, Nakano, Misa, Furusawa, Yoshihiko, and Sano, Akira

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2021
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37. International Validation of the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score.

Author

Doets AY, Walgaard C, Lingsma HF, Islam B, Papri N, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N, Gorson KC, and Jacobs BC

Subjects
Cohort Studies, Humans, Prospective Studies, Respiration, Artificial, Guillain-Barre Syndrome diagnosis, Guillain-Barre Syndrome therapy, Respiratory Insufficiency etiology, Respiratory Insufficiency therapy
Abstract

Objective: This study aimed to validate the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score in the International Guillain-Barré Syndrome Outcome Study cohort, and to improve its performance and region-specificity., Methods: We examined data from the first 1,500 included patients, aged ≥6 years and not ventilated prior to study entry. Patients with a clinical variant or mild symptoms were also included. Outcome was mechanical ventilation within the first week from study entry. Model performance was assessed regarding the discriminative ability (area under the receiver operating characteristic curve) and the calibration (observed vs predicted probability of mechanical ventilation), in the full cohort and in Europe/North America and Asia separately. We recalibrated the model to improve its performance and region-specificity., Results: In the group of 1,023 eligible patients (Europe/North America n = 842, Asia n = 104, other n = 77), 104 (10%) required mechanical ventilation within the first week from study entry. Area under the curve values were ≥0.80 for all validation subgroups. Mean observed proportions of mechanical ventilation were lower than predicted risks: full cohort 10% versus 21%, Europe/North America 9% versus 21%, and Asia 17% versus 23%. After recalibration, predicted risks for the full cohort and Europe/North America corresponded to observed proportions., Interpretation: This prospective, international cohort study validated the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score, and showed that the model can be used in the full spectrum of Guillain-Barré syndrome patients. In addition, a more accurate, region-specific version of the model was developed for patients from Europe/North America. ANN NEUROL 2022;91:521-531., (© 2022 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Published
2022
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38. The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.

Author

Yoshikawa K, Kuwahara M, Saigoh K, Ishiura H, Yamagishi Y, Hamano Y, Samukawa M, Suzuki H, Hirano M, Mitsui Y, Tsuji S, and Kusunoki S

Abstract

Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease., Results: The patient exhibited hypotonia during infancy, after which intellectual disability, epileptic fits, spastic paraplegia, and cerebellar atrophy occurred. Genetic analysis revealed a novel de novo mutation (c.254C > A, p.A85D) in the motor domain of KIF1A .

Published
2018
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