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1. Detection of clonal plasma cells in POEMS syndrome using multiparameter flow cytometry

Author

Ishii, Arata, Tsukamoto, Shokichi, Mimura, Naoya, Miyamoto-Nagai, Yurie, Isshiki, Yusuke, Matsui, Shinichiro, Nakao, Sanshiro, Shibamiya, Asuka, Hino, Yutaro, Kayamori, Kensuke, Oshima-Hasegawa, Nagisa, Muto, Tomoya, Takeda, Yusuke, Suichi, Tomoki, Misawa, Sonoko, Ohwada, Chikako, Yokote, Koutaro, Kuwabara, Satoshi, Nakaseko, Chiaki, Takamatsu, Hiroyuki, and Sakaida, Emiko

Published
2024
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6. Multifocal motor neuropathy in Japan: A nationwide survey on prevalence, clinical profiles, and treatment.

Author

Aotsuka, Yuya, Misawa, Sonoko, Suichi, Tomoki, Shibuya, Kazumoto, Nakamura, Keigo, Kano, Hiroki, Otani, Ryo, Morooka, Marie, Ogushi, Moeko, Nagashima, Kengo, Sato, Yasunori, Kuriyama, Nagato, and Kuwabara, Satoshi

Subjects
*MOTOR neuron diseases, *SEROTHERAPY, *PEDIATRIC neurology, *MUSCLE weakness, *EUROPEAN integration
Abstract

Introduction/Aims Methods Results Discussion Multifocal motor neuropathy (MMN) is a rare disease for which epidemiological and clinical data are limited. We conducted a nationwide survey to determine disease prevalence, incidence, clinical profile, and current treatment status in Japan.A nationwide survey was conducted in 2021 using an established epidemiological method. Questionnaires were sent to all neurology and pediatric neurology departments in Japan. An initial questionnaire was administered to determine the number of patients with and incidence of MMN. A second questionnaire was administered to collect detailed clinical information. The European Federation of Neurological Societies/Peripheral Nerve Society 2010 guidelines were used as diagnostic criteria.The estimated number of patients with MMN was 507. The estimated prevalence was 0.40 per 100,000 individuals. Detailed clinical profiles were available for 120 patients. The male‐to‐female ratio was 2.3:1 and the median onset age was 42 years. The median disease duration at diagnosis was 25 months. Most patients presented with upper limb‐dominant muscle weakness. Motor nerve conduction blocks were found in 62% of patients and positive anti‐GM1 IgM antibody results in 54%. A total of 117 (98%) patients received immunoglobulin therapy, and 91% of them showed improvement. At the time of the last visit (median, 82 months from treatment initiation), 89 (74%) patients were receiving maintenance immunoglobulin therapy. A slight progression of neurological deficits was observed during follow‐up.Most patients with MMN in Japan received induction and maintenance immunoglobulin therapies, which appear to suppress long‐term disease progression. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Efficacy and safety of eculizumab in Guillain‐Barré syndrome: A phase 3, multicenter, double‐blind, randomized, placebo‐controlled clinical trial.

Author

Kuwabara, Satoshi, Kusunoki, Susumu, Kuwahara, Motoi, Yamano, Yoshihisa, Nishida, Yoichiro, Ishida, Hirokazu, Kasuya, Tomoyuki, Kupperman, Erik, Lin, Qun, Frick, Glen, and Misawa, Sonoko

Subjects
INTRAVENOUS immunoglobulins, PLACEBOS, IMMUNOSUPPRESSIVE agents, MEDICAL quality control, PATIENT safety, RESEARCH funding, STATISTICAL sampling, BLIND experiment, GUILLAIN-Barre syndrome, TREATMENT effectiveness, RANDOMIZED controlled trials, DESCRIPTIVE statistics, MONOCLONAL antibodies, INTRAVENOUS therapy, ODDS ratio, RESEARCH, CONVALESCENCE, COMPARATIVE studies, CONFIDENCE intervals, PLASMA exchange (Therapeutics), PHARMACODYNAMICS
Abstract

Background and Aims: Guillain‐Barré syndrome (GBS) is an acute, self‐limited, immune‐mediated peripheral neuropathy. Current treatments for GBS include intravenous immunoglobulin (IVIg) and plasma exchange, which may not sufficiently benefit severely affected patients. This study evaluated the efficacy and safety of eculizumab add‐on therapy to IVIg (standard‐of‐care treatment) in patients with severe GBS. Methods: This phase 3, multicenter, double‐blind, randomized, placebo‐controlled clinical trial (NCT04752566), enrolled Japanese adults (age ≥ 18 years) with severe GBS (Hughes functional grade [FG] score FG3 or FG4/FG5 within 2 weeks of onset of GBS). Participants were randomized 2:1 to receive intravenous infusion of eculizumab or placebo (once weekly for 4 weeks) with IVIg treatment with 20 weeks of follow‐up. Primary efficacy endpoint was the time to first reach FG score ≤1 (able to run). Key secondary endpoints were proportion of participants achieving FG ≤1 at weeks 8 and 24 and FG improvement ≥3 at week 24. Pharmacodynamic analysis of serum free C5 concentration over time was performed. Safety was evaluated. Results: The analysis included 57 participants (eculizumab, n = 37; placebo, n = 20). Primary endpoint was not achieved (hazard ratio, 0.9; 95% CI, 0.45–1.97; p =.89). Key secondary endpoints did not reach statistical significance. Serum C5 concentration was reduced by 99.99% at 1 h postdose and sustained to week 5 but returned to baseline at the end of follow‐up period. No new safety signals for eculizumab were identified. Interpretation: Although well tolerated, eculizumab treatment did not show significant effects on motor function recovery compared to placebo in patients with GBS. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Prevalence and clinical profiles of anti‐myelin‐associated glycoprotein neuropathy in Japan: A nationwide survey study of 133 patients

Author

Aotsuka, Yuya, primary, Misawa, Sonoko, additional, Suichi, Tomoki, additional, Shibuya, Kazumoto, additional, Nakamura, Keigo, additional, Kano, Hiroki, additional, Otani, Ryo, additional, Morooka, Marie, additional, Ogushi, Moeko, additional, Nagashima, Kengo, additional, Sato, Yasunori, additional, Kuriyama, Nagato, additional, and Kuwabara, Satoshi, additional

Published
2024
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11. Diagnostic utility of Gold Coast criteria for amyotrophic lateral sclerosis in Asia.

Author

Otani, Ryo, Shibuya, Kazumoto, Shimizu, Toshio, Kitaoji, Takamasa, Noto, Yu-Ichi, Bokuda, Kota, Kimura, Hideki, Suichi, Tomoki, Nakamura, Keigo, Kano, Hiroki, Morooka, Marie, Aotsuka, Yuya, Ogushi, Moeko, Misawa, Sonoko, and Kuwabara, Satoshi

Subjects
AMYOTROPHIC lateral sclerosis, PARKINSON'S disease, SPONDYLOSIS, ASIANS, JAPANESE people
Abstract

Objective: This study aimed to reveal the diagnostic utility of Gold Coast (GC) criteria in Japanese patients with amyotrophic lateral sclerosis (ALS) by comparing the sensitivity/specificity with revised El Escorial (R-EE) and Awaji criteria, because its utility has not been studied in Asian ALS. Methods: Consecutive 639 patients (529 with ALS and 110 with ALS mimics), who were suspected of ALS and referred to three Japanese ALS centers, were enrolled. Diagnostic accuracy and characteristics of false positive and negative in GC criteria were compared with those of the Awaji and R-EE criteria. Patients were categorized as definite, probable or possible ALS according to each criterion. Results: The sensitivity of GC criteria (96.8%, 95% confidence interval [CI]: 95.3–98.3%) was higher than that of Awaji (89.6%, 95% CI: 87.0–92.2%) and R-EEC (89.2, 95% CI: 86.6–91.8%) criteria (both, p < 0.001). The specificity was also higher with GC criteria (77.3%, 95% CI: 69.5–85.1%) than Awaji (65.5%, 95% CI: 56.6–74.4%) and R-EEC (66.4, 95% CI: 57.6–75.2%) criteria (both, p < 0.01). Using GC criteria, patients with cervical spondylosis and Parkinson's syndrome tended to be diagnosed with ALS (i.e. "false positive"). Additionally, ALS patients diagnosed only by GC criteria less frequently had upper motor neuron (UMN) signs, compared with the other two criteria. Conclusion: Gold Coast criteria improve diagnostic accuracy for ALS in an Asian population, especially in patients with subtle UMN signs. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Chronic Inflammatory Demyelinating Polyneuropathy

Author

Kuwabara, Satoshi, Misawa, Sonoko, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Rezaei, Nima, Series Editor, Sango, Kazunori, editor, Yamauchi, Junji, editor, Ogata, Toru, editor, and Susuki, Keiichiro, editor

Published
2019
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14. Measurement of axonal excitability: Consensus guidelines

Author

Kiernan, Matthew C., Bostock, Hugh, Park, Susanna B., Kaji, Ryuji, Krarup, Christian, Krishnan, Arun V., Kuwabara, Satoshi, Lin, Cindy Shin-Yi, Misawa, Sonoko, Moldovan, Mihai, Sung, Jiaying, Vucic, Steve, Wainger, Brian J., Waxman, Stephen, and Burke, David

Published
2020
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16. Safety and efficacy of eculizumab in Guillain-Barré syndrome: a multicentre, double-blind, randomised phase 2 trial

Author

Misawa, S, Kuwabara, S, Sato, Y, Yamaguchi, N, Nagashima, K, Katayama, K, Sekiguchi, Y, Iwai, Y, Amino, H, Suichi, T, Yokota, T, Nishida, Y, Kanouchi, T, Kohara, N, Kawamoto, M, Ishii, J, Kuwahara, M, Suzuki, H, Hirata, K, Kokubun, N, Masuda, R, Kaneko, J, Yabe, I, Sasaki, H, Kaida, K, Takazaki, H, Suzuki, N, Suzuki, S, Nodera, H, Matsui, N, Tsuji, S, Koike, H, Yamasaki, R, Kusunoki, S, Nagashima, T, Shimizu, T, Hirotani, M, Kadoya, M, Nakahara, J, Shimizu, J, Tanaka, M, Sobue, G, Katsuno, M, Yamaguchi, H, Ogata, H, Misawa, Sonoko, Kuwabara, Satoshi, Sato, Yasunori, Yamaguchi, Nobuko, Nagashima, Kengo, Katayama, Kanako, Sekiguchi, Yukari, Iwai, Yuta, Amino, Hiroshi, Suichi, Tomoki, Yokota, Takanori, Nishida, Yoichiro, Kanouchi, Tadashi, Kohara, Nobuo, Kawamoto, Michi, Ishii, Junko, Kuwahara, Motoi, Suzuki, Hidekazu, Hirata, Koichi, Kokubun, Norito, Masuda, Ray, Kaneko, Juntaro, Yabe, Ichiro, Sasaki, Hidenao, Kaida, Ken-ichi, Takazaki, Hiroshi, Suzuki, Norihiro, Suzuki, Shigeaki, Nodera, Hiroyuki, Matsui, Naoko, Tsuji, Shoji, Koike, Haruki, Yamasaki, Ryo, and Kusunoki, Susumu

Published
2018
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17. Genetic and transcriptional landscape of plasma cells in POEMS syndrome

Author

Nagao, Yuhei, Mimura, Naoya, Takeda, June, Yoshida, Kenichi, Shiozawa, Yusuke, Oshima, Motohiko, Aoyama, Kazumasa, Saraya, Atsunori, Koide, Shuhei, Rizq, Ola, Hasegawa, Yoshinori, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Nishijima, Dai, Isshiki, Yusuke, Kayamori, Kensuke, Kawajiri-Manako, Chika, Oshima-Hasegawa, Nagisa, Tsukamoto, Shokichi, Mitsukawa, Shio, Takeda, Yusuke, Ohwada, Chikako, Takeuchi, Masahiro, Iseki, Tohru, Misawa, Sonoko, Miyano, Satoru, Ohara, Osamu, Yokote, Koutaro, Sakaida, Emiko, Kuwabara, Satoshi, Sanada, Masashi, Iwama, Atsushi, Ogawa, Seishi, and Nakaseko, Chiaki

Published
2019
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27. Unraveling unique features of plasma cell clones in POEMS syndrome with single-cell analysis

Author

Isshiki, Yusuke, primary, Oshima, Motohiko, additional, Mimura, Naoya, additional, Kayamori, Kensuke, additional, Miyamoto-Nagai, Yurie, additional, Seki, Masahide, additional, Nakajima-Takagi, Yaeko, additional, Kanamori, Takashi, additional, Iwamoto, Eisuke, additional, Muto, Tomoya, additional, Tsukamoto, Shokichi, additional, Takeda, Yusuke, additional, Ohwada, Chikako, additional, Misawa, Sonoko, additional, Ikeda, Jun-ichiro, additional, Sanada, Masashi, additional, Kuwabara, Satoshi, additional, Suzuki, Yutaka, additional, Sakaida, Emiko, additional, Nakaseko, Chiaki, additional, and Iwama, Atsushi, additional

Published
2022
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28. Combined Therapy with Ixazomib, Lenalidomide, and Dexamethasone for Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes Syndrome

Author

Suichi, Tomoki, primary, Misawa, Sonoko, additional, Sekiguchi, Yukari, additional, Shibuya, Kazumoto, additional, Nakamura, Keigo, additional, Kano, Hiroki, additional, Aotsuka, Yuya, additional, Otani, Ryo, additional, Morooka, Marie, additional, Tsukamoto, Shokichi, additional, Takeda, Yusuke, additional, Mimura, Naoya, additional, Ohwada, Chikako, additional, Sakaida, Emiko, additional, and Kuwabara, Satoshi, additional

Published
2022
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29. Relationship between motor cortical and peripheral axonal hyperexcitability in amyotrophic lateral sclerosis

Author

Suzuki, Yo-Ichi, primary, Shibuya, Kazumoto, additional, Misawa, Sonoko, additional, Suichi, Tomoki, additional, Tsuneyama, Atsuko, additional, Kojima, Yuta, additional, Nakamura, Keigo, additional, Kano, Hiroki, additional, Prado, Mario, additional, Aotsuka, Yuya, additional, Otani, Ryo, additional, Morooka, Marie, additional, and Kuwabara, Satoshi, additional

Published
2022
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30. Decreased initial compound muscle action potential amplitudes in myasthenia gravis

Author

Kojima, Yuta, primary, Shibuya, Kazumoto, additional, Uzawa, Akiyuki, additional, Kano, Hiroki, additional, Nakamura, Keigo, additional, Yasuda, Manato, additional, Suzuki, Yo‐ichi, additional, Tsuneyama, Atsuko, additional, Suichi, Tomoki, additional, Ozawa, Yukiko, additional, Misawa, Sonoko, additional, Noto, Yu‐ichi, additional, Mizuno, Toshiki, additional, and Kuwabara, Satoshi, additional

Published
2022
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36. Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) : 14-year update

Author

Dispenzieri, Angela, Coelho, Teresa, Conceição, Isabel, Waddington-Cruz, Márcia, Wixner, Jonas, Kristen, Arnt V., Rapezzi, Claudio, Planté-Bordeneuve, Violaine, Gonzalez-Moreno, Juan, Maurer, Mathew S., Grogan, Martha, Chapman, Doug, Amass, Leslie, Pavia, Pablo Garcia, Tarnev, Ivaylo, Costello, Jose Gonzalez, Briseno, Maria Alejandra Gonzalez Duarte, Schmidt, Hartmut, Drachman, Brian, Barroso, Fabio Adrian, Yamashita, Taro, Lairez, Olivier, Sekijima, Yoshiki, Vita, Giuseppe, Jeon, Eun-Seok, Hanna, Mazen, Slosky, David, Luigetti, Marco, LoRusso, Samantha, Beamud, Francisco Munoz, Adams, David, Moelgaard, Henning, Press, Rayomand, Cirami, Calogero Lino, Nienhuis, Hans, Plana, Josep Maria Campistol, Inamo, Jocelyn, Jacoby, Daniel, Emdin, Michele, Quan, Dianna, Hummel, Scott, Witteles, Ronald, Dori, Amir, Shah, Sanjiv, Lenihan, Daniel, Azevedo, Olga, Murali, Srinivas, Zivkovic, Sasa, Low, Soon Chai, Nativi-Nicolau, Jose, Fine, Nowell, Tallaj, Jose, Tschoepe, Carsten, Torrón, Roberto Fernandéz, Polydefkis, Michael, Merlini, Giampaolo, Badelita, Sorina, Gottlieb, Stephen, Tauras, James, Correia, Edileide Barros, Ventura, Hector, Gess, Burkhard, Darstein, Felix, Oh, Jeeyoung, Marburger, Tessa, Van Cleemput, Johan, Salutto, Valeria Lujan, Parman, Yesim, Chao, Chi-Chao, Sarswat, Nitasha, Mueller, Christopher, Steidley, David, Ralph, Jeffrey, Warner, Alberta, Cotts, William, Hoffman, James, Rugiero, Marcelo, Misawa, Sonoko, Blanco, Jose Luis Munoz, Davila, Lucia Galan, Sadeh, Menachem, Luo, Jin, Kyriakides, Theodoros, Wang, Annabel, Kaufmann, Horacio, Dispenzieri, Angela, Coelho, Teresa, Conceição, Isabel, Waddington-Cruz, Márcia, Wixner, Jonas, Kristen, Arnt V., Rapezzi, Claudio, Planté-Bordeneuve, Violaine, Gonzalez-Moreno, Juan, Maurer, Mathew S., Grogan, Martha, Chapman, Doug, Amass, Leslie, Pavia, Pablo Garcia, Tarnev, Ivaylo, Costello, Jose Gonzalez, Briseno, Maria Alejandra Gonzalez Duarte, Schmidt, Hartmut, Drachman, Brian, Barroso, Fabio Adrian, Yamashita, Taro, Lairez, Olivier, Sekijima, Yoshiki, Vita, Giuseppe, Jeon, Eun-Seok, Hanna, Mazen, Slosky, David, Luigetti, Marco, LoRusso, Samantha, Beamud, Francisco Munoz, Adams, David, Moelgaard, Henning, Press, Rayomand, Cirami, Calogero Lino, Nienhuis, Hans, Plana, Josep Maria Campistol, Inamo, Jocelyn, Jacoby, Daniel, Emdin, Michele, Quan, Dianna, Hummel, Scott, Witteles, Ronald, Dori, Amir, Shah, Sanjiv, Lenihan, Daniel, Azevedo, Olga, Murali, Srinivas, Zivkovic, Sasa, Low, Soon Chai, Nativi-Nicolau, Jose, Fine, Nowell, Tallaj, Jose, Tschoepe, Carsten, Torrón, Roberto Fernandéz, Polydefkis, Michael, Merlini, Giampaolo, Badelita, Sorina, Gottlieb, Stephen, Tauras, James, Correia, Edileide Barros, Ventura, Hector, Gess, Burkhard, Darstein, Felix, Oh, Jeeyoung, Marburger, Tessa, Van Cleemput, Johan, Salutto, Valeria Lujan, Parman, Yesim, Chao, Chi-Chao, Sarswat, Nitasha, Mueller, Christopher, Steidley, David, Ralph, Jeffrey, Warner, Alberta, Cotts, William, Hoffman, James, Rugiero, Marcelo, Misawa, Sonoko, Blanco, Jose Luis Munoz, Davila, Lucia Galan, Sadeh, Menachem, Luo, Jin, Kyriakides, Theodoros, Wang, Annabel, and Kaufmann, Horacio

Abstract

Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs. Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021). Results: This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation. Conclusions: This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease. ClinicalTrials.gov Identifier: NCT00628745.

Published
2022
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37. Intravenous immunoglobulin for maintenance treatment of chronic inflammatory demyelinating polyneuropathy: a multicentre, open-label, 52-week phase III trial

Author

Kuwabara, Satoshi, Mori, Masahiro, Misawa, Sonoko, Suzuki, Miki, Nishiyama, Kazutoshi, Mutoh, Tatsuro, Doi, Shizuki, Kokubun, Norito, Kamijo, Mikiko, Yoshikawa, Hiroo, Abe, Koji, Nishida, Yoshihiko, Okada, Kazumasa, Sekiguchi, Kenji, Sakamoto, Ko, Kusunoki, Susumu, Sobue, Gen, and Kaji, Ryuji

Published
2017
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42. Different patterns of sensory nerve involvement in chronic inflammatory demyelinating polyneuropathy subtypes

Author

Shibuya, Kazumoto, primary, Tsuneyama, Atsuko, additional, Misawa, Sonoko, additional, Suzuki, Yo‐ichi, additional, Suichi, Tomoki, additional, Kojima, Yuta, additional, Nakamura, Keigo, additional, Kano, Hiroki, additional, Ohtani, Ryo, additional, Aotsuka, Yuya, additional, Morooka, Marie, additional, Prado, Mario, additional, and Kuwabara, Satoshi, additional

Published
2022
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43. Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Author

Dispenzieri, Angela, Coelho, Teresa, Conceição, Isabel, Waddington-Cruz, Márcia, Wixner, Jonas, Kristen, Arnt V., Rapezzi, Claudio, Planté-Bordeneuve, Violaine, Gonzalez-Moreno, Juan, Maurer, Mathew S., Grogan, Martha, Chapman, Doug, Amass, Leslie, Pavia, Pablo Garcia, Tarnev, Ivaylo, Costello, Jose Gonzalez, Briseno, Maria Alejandra Gonzalez Duarte, Schmidt, Hartmut, Drachman, Brian, Barroso, Fabio Adrian, Yamashita, Taro, Lairez, Olivier, Sekijima, Yoshiki, Vita, Giuseppe, Jeon, Eun-Seok, Hanna, Mazen, Slosky, David, Luigetti, Marco, LoRusso, Samantha, Beamud, Francisco Munoz, Adams, David, Moelgaard, Henning, Press, Rayomand, Cirami, Calogero Lino, Nienhuis, Hans, Plana, Josep Maria Campistol, Inamo, Jocelyn, Jacoby, Daniel, Emdin, Michele, Quan, Dianna, Hummel, Scott, Witteles, Ronald, Dori, Amir, Shah, Sanjiv, Lenihan, Daniel, Azevedo, Olga, Murali, Srinivas, Zivkovic, Sasa, Low, Soon Chai, Nativi-Nicolau, Jose, Fine, Nowell, Tallaj, Jose, Tschoepe, Carsten, Torrón, Roberto Fernandéz, Polydefkis, Michael, Merlini, Giampaolo, Badelita, Sorina, Gottlieb, Stephen, Tauras, James, Correia, Edileide Barros, Ventura, Hector, Gess, Burkhard, Darstein, Felix, Oh, Jeeyoung, Marburger, Tessa, Van Cleemput, Johan, Salutto, Valeria Lujan, Parman, Yesim, Chao, Chi-Chao, Sarswat, Nitasha, Mueller, Christopher, Steidley, David, Ralph, Jeffrey, Warner, Alberta, Cotts, William, Hoffman, James, Rugiero, Marcelo, Misawa, Sonoko, Blanco, Jose Luis Munoz, Davila, Lucia Galan, Sadeh, Menachem, Luo, Jin, Kyriakides, Theodoros, Wang, Annabel, and Kaufmann, Horacio

Subjects
Male, Amyloid Neuropathies, Familial, Registry, Neurologi, Cardiomyopathy, General Medicine, Amyloidosis, Genetic Profile, Amyloid Neuropathies, Transthyretin, Phenotype, Familial, Neurology, Surveys and Questionnaires, Polyneuropathy, Humans, Prealbumin, Pharmacology (medical), Female, Genetics (clinical)
Abstract

Background Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs. Methods Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021). Results This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation. Conclusions This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease. ClinicalTrials.gov Identifier: NCT00628745.

Published
2022

48. Impaired neuromuscular transmission in facial muscles of amyotrophic lateral sclerosis: A single‐fiber electromyography study

Author

Watanabe, Keisuke, primary, Shibuya, Kazumoto, additional, Misawa, Sonoko, additional, Nagashima, Kengo, additional, Suzuki, Yo‐ichi, additional, Suichi, Tomoki, additional, Kojima, Yuta, additional, Nakamura, Keigo, additional, Hiroki, Kano, additional, Prado, Mario, additional, Uzawa, Akiyuki, additional, and Kuwabara, Satoshi, additional

Published
2022
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50. Detection of Clonal Plasma Cells in POEMS Syndrome Using Multiparameter Flow Cytometry

Author

Ishii, Arata, primary, Tsukamoto, Shokichi, additional, Mimura, Naoya, additional, Nagai, Yurie, additional, Matsui, Shinichiro, additional, Nakao, Sanshiro, additional, Shibamiya, Asuka, additional, Hino, Yutaro, additional, Kayamori, Kensuke, additional, Oshima-Hasegawa, Nagisa, additional, Muto, Tomoya, additional, Mitsukawa, Shio, additional, Takeda, Yusuke, additional, Suichi, Tomoki, additional, Misawa, Sonoko, additional, Ohwada, Chikako, additional, Yokote, Koutaro, additional, Kuwabara, Satoshi, additional, Nakaseko, Chiaki, additional, Takamatsu, Hiroyuki, additional, and Sakaida, Emiko, additional

Published
2021
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