Article
Clinical Neurology
Carles Gaig, Yaroslau Compta, Anna Heidbreder, Maria J. Marti, Maarten J. Titulaer, Yvette Crijnen, Birgit Hoegl, Jan Lewerenz, Maria Elena Erro, Juan Carlos Garcia-Monco, Pasquale Nigro, Nicola Tambasco, Maja Patalong-Ogiewa, Marcus Erdler, Stefan Macher, Evelyn Berger-Sieczkowski, Romana Hoeftberger, Christian Geis, Markus Hutterer, Angela Milan-Tomas, Antonio Martin-Bastida, Lydia Lopez Manzanares, Sonia Quintas, Guenter U. Hoeglinger, Nora Moehn, Florian Schoeberl, Franziska S. Thaler, Gian Maria Asioli, Federica Provini, Giuseppe Plazzi, Koldo Berganzo, Morten Blaabjerg, Norbert Brueggemann, Tarsis Farias, Chen Fei Ng, Caroline Giordana, Alejandro Herrero-San Martin, Lucio Huebra, Katya Kotschet, Herburg Liendl, Teresa Montojo, Carlos Morata, Jesus Perez Perez, Inmaculada Puertas, Thomas Seifert-Held, Caspar Seitz, Mateus Mistieri Simabukuro, Nieves Tellez, Javier Villacieros-Alvarez, Barbara Willekens, Lidia Sabater, Alex Iranzo, Joan Santamaria Cano, Josep Dalmau, Francesc Graus
Summary: Anti-IgLON5 disease is a neurological disorder characterized by a variety of movement disorders, with gait disturbances, generalized chorea, and dystonia being the most common. In addition to movement disorders, patients often experience sleep alterations, bulbar dysfunction, and cognitive impairment.
Article
Immunology
Zahra Aghelan, Saeed Karima, Mohammad Rasoul Ghadami, Habibolah Khazaie, Fariborz Bahrehmand, Asad Vaisi-Raygani, Seyed Hosein Abtahi, Reza Khodarahmi
Summary: The study aimed to determine the existence of IgLON5 autoantibodies in serum from patients with chronic insomnia disease and found that the presence of IgLON5 autoantibodies in some patients may be a causing factor of insomnia, which can have an impact on the specific treatment of these patients. Additionally, early recognition of anti-IgLON5 disease may be beneficial for effective and timely treatment before the progression of tauopathies.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2022)
Article
Clinical Neurology
Thomas Grueter, Franziska E. Moellers, Anja Tietz, Justina Dargvainiene, Nico Melzer, Anna Heidbreder, Christine Strippel, Andrea Kraft, Romana Hoeftberger, Florian Schoeberl, Franziska S. Thaler, Jonathan Wickel, Ha-Yeun Chung, Frank Seifert, Marlene Tschernatsch, Michael Nagel, Jan Lewerenz, Sven Jarius, Brigitte C. Wildemann, Lucie de Azevedo, Fedor Heidenreich, Raphaela Heusgen, Ulrich Hofstadt-van Oy, Andreas Linsa, Jannis Justus Maass, Til Menge, Marius Ringelstein, David J. Pedrosa, Josef Schill, Thomas Seifert-Held, Caspar Seitz, Silke Tonner, Christian Urbanek, Simone Zittel, Robert Markewitz, Mirjam Korporal-Kuhnke, Thomas Schmitter, Carsten Finke, Norbert Brueggemann, Corinna Bien, Ingo Kleiter, Ralf Gold, Klaus-Peter Wandinger, Gregor Kuhlenbaeumer, Frank Leypoldt, Ilya Ayzenberg
Summary: In a study of a large group of anti-IgLON5 disease patients, Gruter et al. found that early inflammatory CSF changes, subacute relapses, and HLA-DRB1*10:01 were associated with higher autoantibody levels, supporting the autoimmune nature of the disease. They also found that immunotherapy is effective if initiated early, before major neurodegeneration occurs.
Article
Medicine, General & Internal
Yan Pi, Li-li Zhang, Jing-cheng Li
Summary: Anti-IgLON5 disease is a progressive antibody-associated encephalopathy with symptoms such as gait instability, dysarthria, and oculomotor abnormalities. MRI findings are usually unremarkable, and the disease shows poor responsiveness to immunotherapy.
Article
Clinical Neurology
Sri Raghav Sista, Brian Crum, Albert Aboseif, Michelle F. Devine, Anastasia Zekeridou, M. Bakri Hammami, Mohammed M. Rezk, Andre Truffert, Patrice H. Lalive, Amy Kunchok, Andrew McKeon, Divyanshu Dubey
Summary: The association between IgLON5 autoimmunity and neurological manifestations, including motor neuron disease-like phenotype, is expanding. This study describes four cases of IgLON5 autoimmunity with motor neuron involvement and evaluates the IgLON5-IgG seropositivity in 109 amyotrophic lateral sclerosis cases. The presence of specific symptoms in patients with motor neuron disease-like phenotype should prompt evaluation for IgLON5-IgG autoantibodies. Immunomodulatory treatment for this autoimmune disease may lead to significant neurological improvement in a minority of cases.
JOURNAL OF NEUROLOGY
(2022)
Review
Psychiatry
Niels Hansen, Charles Timaus
Summary: For patients with autoantibody-associated psychiatric syndromes, early corticosteroids, intravenous immunoglobulins, or plasmapheresis are recommended as first-line immunotherapy, followed by rituximab or cyclophosphamide as second-line therapy if first-line options fail. Maintenance therapy with mycofenolate mofetil or azathioprine is suggested for those responding to steroids. Retrospective cohort studies support the use of first- and second-line, and maintenance immunotherapies, but more research is needed to establish efficacy and safety through clinical trials.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Clinical Neurology
Ali Abusrair, Adriana Mititelu, Gerald Pfeffer, Lisa Rosenegger, Camila C. Aquino
Summary: This report describes a 37-year-old Caucasian male with a history of developmental delay, childhood onset Intellectual Disability (ID) and attention deficit hyperactivity disorder (ADHD). The patient presented at the age of 34 with tremor-dominant parkinsonism. Next Generation Sequencing (NGS) revealed a pathogenic hemizygous sequence variant, c.200G > T, in the RAB39B gene.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Clinical Neurology
Yi Li, Lili Zhang, Yuzhong Wang
Summary: This article reports an unusual case of anti-IgLON5 antibody positive disease complicated with rectal cancer. The patient initially presented with slurred speech and limb tremors, followed by epileptic-like seizures, lethargy, and sleep apnea. The patient responded well to the treatment of plasma exchange and gradual reduction of steroids therapy. Tumor screening should be considered in patients with anti-IgLON5 disease.
Article
Multidisciplinary Sciences
Guiquan Jia, Thirumalai R. Ramalingam, Jason Vander Heiden, Xia Gao, Daryle Depianto, Katrina B. Morshead, Zora Modrusan, Nandhini Ramamoorthi, Paul Wolters, Celia Lin, Dinesh Khanna, Joseph R. Arron
Summary: This study analyzed skin biopsy samples from systemic sclerosis patients and found that treatment with tocilizumab may be related to plasma cell genes. The study also revealed increased expression levels of plasma cell genes in fibrotic interstitial lung diseases. These findings provide new insights into disease progression and the mechanism of action of tocilizumab.
Article
Biochemistry & Molecular Biology
Stefan Groha, Sarah Abou Alaiwi, Wenxin Xu, Vivek Naranbhai, Amin H. H. Nassar, Ziad Bakouny, Talal El Zarif, Renee Maria Saliby, Guihong Wan, Ahmad Rajeh, Elio Adib, Pier V. V. Nuzzo, Andrew L. L. Schmidt, Chris Labaki, Biagio Ricciuti, Joao Victor Alessi, David A. A. Braun, Sachet A. A. Shukla, Tanya E. E. Keenan, Eliezer Van Allen, Mark M. M. Awad, Michael Manos, Osama Rahma, Leyre Zubiri, Alexandra-Chloe Villani, Benjamin Fairfax, Christian Hammer, Zia Khan, Kerry Reynolds, Yevgeniy Semenov, Deborah Schrag, Kenneth L. L. Kehl, Matthew L. L. Freedman, Toni K. K. Choueiri, Alexander Gusev
Summary: Immune checkpoint inhibitors (ICIs) can lead to significant responses in cancer treatment, but they also carry the risk of immune-related adverse events (irAEs). This study identified three genetic variants associated with the development of irAEs in patients receiving ICIs. The presence of these variants was found to be associated with increased stability of lymphocytes after ICI treatment, which in turn predicted the occurrence of irAEs and improved survival.
Article
Chemistry, Multidisciplinary
Yeoul Kang, Junha Lim, Gurusamy Saravanakumar, Jinseong Kim, Mihyeon Park, Sooseok Im, Won Jong Kim
Summary: A polymer-based hypoxia-responsive nanocomplex was developed to enhance cancer immunotherapy by reprogramming tumor-associated macrophages (TAMs) into tumoricidal M1 macrophages. The study demonstrated that the nanocomplex successfully reduced the immunosuppressive components in hypoxic tumors and promoted infiltration of CD8(+) T cells, leading to favorable immunotherapy outcomes.
JOURNAL OF CONTROLLED RELEASE
(2022)
Review
Oncology
Emmanuel Donnadieu, Maik Luu, Miriam Alb, Brigitte Anliker, Silvia Arcangeli, Chiara Bonini, Biagio De Angelis, Rashmi Choudhary, David Espie, Anne Galy, Cam Holland, Zoltan Ivics, Chahrazade Kantari-Mimoun, Marie Jose Kersten, Ulrike Koehl, Chantal Kuhn, Bruno Laugel, Franco Locatelli, Ibtissam Marchiq, Janet Markman, Marta Angiola Moresco, Emma Morris, Helene Negre, Concetta Quintarelli, Michael Rade, Kristin Reiche, Matthias Renner, Eliana Ruggiero, Carmen Sanges, Hans Stauss, Maria Themeli, Jan Van den Brulle, Michael Hudecek, Monica Casucci
Summary: The article introduces current preclinical models used to test the safety of engineered T cells, emphasizes the limitations of existing models, and proposes potential measures for improvement.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2022)
Article
Oncology
Jamaal L. James, Brandie C. Taylor, Margaret L. Axelrod, Xiaopeng Sun, Lindsey N. Guerin, Paula Gonzalez-Ericsson, Yu Wang, Violeta Sanchez, Catherine C. Fahey, Melinda E. Sanders, Yaomin Xu, Emily Hodges, Douglas B. Johnson, Justin M. Balko
Summary: This study investigates the predictive role of upregulation of tumor-specific major histocompatibility complex-II (tsMHC-II) in anti-PD-1/PD-L1 therapy, and identifies the inhibitory effects of polycomb repressive complex 2 (PRC2)/EZH2 signaling and H3K27 hypermethylation on tsMHC-II expression.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2023)
Review
Clinical Neurology
Anna Grossauer, Anna Hussl, Philipp Mahlknecht, Marina Peball, Anna Heidbreder, Florian Deisenhammer, Atbin Djamshidian, Klaus Seppi, Beatrice Heim
Summary: Anti-IgLON5 disease is an autoimmune encephalopathy characterized by sleep disturbances. It has a wide range of clinical symptoms, including movement disorders, bulbar dysfunction, autonomic disorders, and neurocognitive impairment. This study reports a case of an 87-year-old woman with isolated progressive hemichorea. A literature review identified multiple cases of anti-IgLON5 disease with chorea as an extrapyramidal movement disorder in their clinical phenotype. Screening for IgLON5 antibodies should be considered in patients with unexplained movement disorders, including isolated hemichorea.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Review
Clinical Neurology
Carmen Gonzalez-Avila, Laura Casado, Ines Muro Garcia, Javier Villacieros-Alvarez, Jose Vivancos, Sonia Quintas
Summary: Anti-IgLON5 disease is a rare disorder with a variety of symptoms, and the pathophysiology remains unknown. A case study demonstrated a positive Anti-IgLON5 disease patient with clinical features resembling progressive supranuclear palsy, but abnormality in the left presynaptic dopaminergic pathway was found through ioflupane SPECT examination.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Hongzhi Guan, Ao Shen, Xia Lv, Xunzhe Yang, Haitao Ren, Yanhuan Zhao, Yinxin Zhang, Yanping Gong, Peixiang Ni, Honglong Wu, Yicheng Zhu, Liying Cui
JOURNAL OF NEUROVIROLOGY
(2016)
Article
Clinical Neurology
Ming Yao, Jiali Zhou, Yicheng Zhu, Yinxin Zhang, Xia Lv, Ruixue Sun, Ao Shen, Haitao Ren, Liying Cui, Hongzhi Guan, Honglong Wu
JOURNAL OF CLINICAL NEUROLOGY
(2016)
Article
Rheumatology
Antao Xu, Yan Ye, Qiong Fu, Xinyue Lian, Sheng Chen, Qiang Guo, Liang-jing Lu, Min Dai, Xia Lv, Chunde Bao
Summary: Anti-Ro52 antibody is highly prevalent in anti-MDA5-positive CADM-ILD patients and their coexistence correlates with a subgroup of patients with more aggressive phenotypes. The combination of anti-MDA5 antibody levels and anti-Ro52 antibody status could help to predict patients' prognosis and guide risk-based therapy.
Editorial Material
Rheumatology
Antao Xu, Xia Lv, Fang Du, Min Dai
Article
Medicine, General & Internal
Zhangling Xu, Xia Lv, Wenwen Xu, Yan Ye, Xiaodong Wang, Shuang Ye, Huihua Ding, Wanlong Wu
Summary: This study reported a case series of spontaneous intramuscular hemorrhage (SIH) associated with dermatomyositis (DM) and analyzed its characteristics and prognostic effects. The results showed that bleeding in deep muscles was associated with poorer prognosis. Spontaneous hematoma in non-palpable deep muscles may lead to excess mortality in DM patients, particularly those with anti-MDA5 antibody.
FRONTIERS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Xia Lv, Yuyang Jin, Danting Zhang, Yixuan Li, Yakai Fu, Suli Wang, Yan Ye, Wanlong Wu, Shuang Ye, Bing Yan, Xiaoxiang Chen
Summary: This study revealed that in patients with anti-MDA5 antibody-positive dermatomyositis, lymphocyte and monocyte counts early in the disease course may serve as predictive biomarkers for 6-month all-cause mortality, with lower counts indicating higher risk of death.
FRONTIERS IN MEDICINE
(2022)
