Article
Clinical Neurology
Kjell Inge Erikstad, Ida Herdlevaer, Elise Peter, Mette Haugen, Cecilie Totland, Christian Vedeler
Summary: To increase the accuracy of Yo-PCD diagnosis, using a CDR2L cell-based assay (CBA) as an additional screening technique can be helpful.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Immunology
Margrethe Raspotnig, Torbjorn Krakenes, Ida Herdlevaer, Mette Haugen, Christian Vedeler
Summary: The study revealed distinct distribution patterns of CDR2L and CDR2 antigens in the rat and human brain, with CDR2L primarily localized in Purkinje cells and large neurons, and CDR2 detected in vascular smooth muscle cells and the ventricle system. This suggests that CDR2L may be the main target of anti-Yo antibodies, as CDR2 and CDR2L are expressed by different cell subtypes.
JOURNAL OF NEUROIMMUNOLOGY
(2022)
Article
Oncology
Michael J. Lehner, Jinesh S. Gheeya, Bilal A. Siddiqui, Sudhakar Tummala
Summary: PCA-1 associated PCD is a rare neurological disorder linked to breast and ovarian cancers, characterized by autoimmunity against cerebellar antigens. Prompt diagnosis and treatment are crucial, with immunosuppression being the primary treatment modality.
JOURNAL OF NEURO-ONCOLOGY
(2021)
Article
Immunology
Haitao Ren, Dachun Zhao, Xiaolu Xu, Yingmai Yang, Siyuan Fan, Wenhan Li, Hongzhi Guan
Summary: Anti-PKC gamma antibodies are rare onconeural antibodies associated with paraneoplastic cerebellar degeneration (PCD), with only a few reported cases. This study presents a Chinese patient with PCD and anti-PKC gamma antibodies, whose symptoms gradually improved after radiotherapy and intravenous immunoglobulin therapy for lymphoepithelial carcinoma found in the tonsil.
JOURNAL OF NEUROIMMUNOLOGY
(2021)
Review
Neurosciences
Philipp Alexander Loehrer, Lara Zieger, Ole J. Simon
Summary: Paraneoplastic cerebellar degeneration (PCD) is characterized by rapidly progressive cerebellar syndrome and is associated with specific antibodies. Early recognition of clinical symptoms and antibodies is crucial for detecting underlying malignancies, and the 2021 updated diagnostic criteria play a key role in this process. Continuous surveillance of patients with specific symptoms and antibodies is recommended as clinical symptoms can precede tumor diagnosis by years.
Article
Chemistry, Multidisciplinary
Marta Meneghello, Ana Rita Oliveira, Aurore Jacq-Bailly, Ines A. C. Pereira, Christophe Leger, Vincent Fourmond
Summary: Mo/W formate dehydrogenases catalyze the reversible reduction of CO2 to formate, and it has been definitively demonstrated through an electrochemical method that the substrate is indeed CO2, not a hydrated species like HCO3-.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2021)
Article
Clinical Neurology
Takeshi Imai, Kensuke Shinohara, Kenji Uchino, Hirohisa Okuma, Futaba Maki, Kiyoshi Hiruma, Yasushi Ariizumi, Yoshihisa Yamano
Summary: This case report presents a 60-year-old woman with paraneoplastic cerebellar degeneration (PCD) and anti-Yo antibodies associated with a submandibular gland tumor. Despite various treatments including methylprednisolone, plasma exchange, immunoglobulins, and cyclophosphamide therapy, the patient's symptoms did not improve.
Article
Chemistry, Multidisciplinary
Ferran Esteve, Fidan Rahmatova, Jean-Marie Lehn
Summary: This study reveals the remarkable effect of supramolecular multivalency on increasing imine stability. By synthesizing a series of reactive aldehydes bearing supramolecularly-active sites, it was found that decreasing the degree of supramolecular multivalency significantly decreased imine yields. Preliminary results on protein bioconjugation demonstrated the ability to dynamically inhibit the activity of carbonic anhydrase and recover its initial activity with a suitable chemical effector.
Review
Biochemistry & Molecular Biology
Ashok Aspatwar, Leo Syrjanen, Seppo Parkkila
Summary: Zebrafish have become a crucial model organism for studying various physiological and biological phenomena. Carbonic anhydrases (CAs) and carbonic anhydrase related proteins (CARPs) play important roles in multiple physiological processes, including pigmentation and motor coordination in zebrafish. Disruption of these proteins' function in zebrafish can have lethal outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Chiara Testa, Anna Maria Papini, Reinhard Zeidler, Daniela Vullo, Fabrizio Carta, Claudiu T. Supuran, Paolo Rovero
Summary: This study reports the first Antibody-Drug-Conjugates (ADCs) containing human Carbonic Anhydrase (CA) directed Monoclonal Antibodies (MAbs) linked to low molecular weight inhibitors. The results show potent inhibition of tumor-associated CA enzymes and off-target human CA isoforms. These findings support the development of a novel class of ADCs for the treatment of chronic diseases such as cancer and inflammation.
JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Mingli Hsieh, Pei-Ju Huang, Pei-Yu Chou, Shih-Wei Wang, Hsi-Chi Lu, Wei-Wen Su, Yuan-Chiang Chung, Min-Huan Wu
Summary: Research has shown that CAVIII is overexpressed in colorectal cancer tissues and more aggressive cancer cells. It may facilitate the release of VEGF by inhibiting miRNA16-5p. The CAVIII/miR-16-5p signaling pathway appears to function as a metastasis suppressor in CRC.
Article
Chemistry, Medicinal
Gustavo Provensi, Alessia Costa, Barbara Rani, Maria Vittoria Becagli, Fabio Vaiano, Maria Beatrice Passani, Damiano Tanini, Antonella Capperucci, Simone Carradori, Jacobus P. Petzer, Anel Petzer, Daniela Vullo, Gabriele Costantino, Patrizio Blandina, Andrea Angeli, Claudiu T. Supuran
Summary: This study reported the synthesis of β-arylchalcogeno amines with structural similarity to amphetamine, which showed good activation properties for certain enzymes in the brain. In vivo evaluation demonstrated the procognitive effects of these compounds without causing unwanted side effects. These findings suggest the potential utility of these compounds for improving cognitive decline associated with neurodegenerative and psychiatric diseases.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
(2022)
Article
Clinical Neurology
Satyan Nanda, Rahul Handa, Atul Prasad, Rajiv Anand, Dhruv Zutshi, Sujata K. Dass, Prabhjeet Kaur Bedi, Aarti Pahuja, Pankaj Kumar Shah, Bipan Sharma, Nalin Malhotra
Summary: Neurological manifestations are common in COVID-19 patients, with encephalitis being a relatively rare but serious complication. It is crucial to differentiate between herpes encephalitis and COVID-19-associated encephalitis due to differences in treatment and prognosis. Physicians should maintain a high level of suspicion for COVID-19 infection in patients with encephalitis symptoms and respiratory complaints.
NEUROLOGICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Xiaojing Huang, Daniel Winter, Dominic. J. J. Glover, Claudiu. T. T. Supuran, William. A. A. Donald
Summary: Carbonic anhydrases (CAs) are metalloenzymes that play important roles in cellular processes and have been implicated in various diseases. Phosphorylation, a common post-translational modification of CAs, can significantly impact their catalytic activity and drug-binding capabilities. This study highlights the potential regulatory role of phosphorylation in CA activity and its effect on small molecule drug binding.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Federico Massa, Laura Filippi, Luana Benedetti, Silvia Morbelli, Flavio Nobili
Summary: This study describes a case of seronegative PCD associated with small cell lung cancer, in which F-18-FDG PET semiquantitative analysis accurately revealed the longitudinal pathological changes in brain metabolism during acute and posttreatment remission stages, correlating with clinical impairment and response to treatment.
CLINICAL NUCLEAR MEDICINE
(2021)
Editorial Material
Clinical Neurology
Sofia Maldonado Slootjes, Jon Landa, Lidia Sabater, Vincent van Pesch
ACTA NEUROLOGICA BELGICA
(2022)
Review
Genetics & Heredity
Juan Luque, Ingrid Mendes, Beatriz Gomez, Beatriz Morte, Miguel Lopez de Heredia, Enrique Herreras, Virginia Corrochano, Juan Bueren, Pia Gallano, Rafael Artuch, Cristina Fillat, Luis A. Perez-Jurado, Lluis Montoliu, Angel Carracedo, Jose M. Millan, Susan M. Webb, Francesc Palau, Pablo Lapunzina
Summary: CIBERER, a thematic area of CIBER, focuses on rare disease research. It aims to facilitate collaboration between biomedical and clinical research groups and provide new tools for the diagnosis and therapy of low-prevalence diseases.
Editorial Material
Clinical Neurology
Francesc Graus, Josep Dalmau
Review
Clinical Neurology
Alejandro Leon Betancourt, Anina Schwarzwald, Alban Millonig, Michael Oberholzer, Lidia Sabater, Helly Hammer, Nicole Kamber, Lara Diem, Andrew Chan, Robert Hoepner, Anke Salmen, Christoph Friedli
Summary: KLHL11-IgG encephalitis is a rare autoimmune disease associated with testicular germ cell tumors. Early diagnosis and treatment are crucial, and further research is needed to address therapeutic management.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Editorial Material
Clinical Neurology
Amy Kunchok, Josep Dalmau
Summary: Anti-NMDA receptor encephalitis is characterized by behavioral, cognitive, and psychiatric alterations, along with seizures, abnormal movements, dysautonomia, or decreased consciousness. These symptoms develop sequentially over several weeks in association with NMDAR-IgG in cerebrospinal fluid. After the initial presentation, persistent symptoms may last for weeks or months and often require ICU care, followed by a slow recovery. Changes in CSF antibody titers may correlate with relapse, but serum titers are unreliable biomarkers of disease activity.
Article
Clinical Neurology
Mar Guasp, Josep Dalmau
Summary: In recent years, there have been numerous reports on individual symptoms of autoimmune encephalitis (AE) in neurology and psychiatry journals. However, the presence of antibodies in psychiatric diseases has not defined any specific disorder or affected the diagnosis and treatment of patients. These studies often lack rigorous investigations and fail to address the clinical significance and limitations of antibody testing techniques. Clinical judgment is emphasized as important in interpreting antibody findings.
Article
Immunology
Jon Landa, Ana Beatriz Serafim, Carles Gaig, Albert Saiz, Inga Koneczny, Romana Hoftberger, Joan Santamaria, Josep Dalmau, Francesc Graus, Lidia Sabater
Summary: This study explores the interactome of IgLON5 and demonstrates that IgLON5 antibodies can interfere with its protein interactions. The findings reveal a potentially novel pathogenic mechanism of IgLON5 antibodies in blocking its interactions with binding partners, extending our knowledge about the physiological role of IgLON5 and contributing to the understanding of the pathological mechanisms of anti-IgLON5 disease.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Cristina Arnaldos-Perez, Andreu Vilaseca, Laura Naranjo, Lidia Sabater, Josep Dalmau, Raquel Ruiz-Garcia, Francesc Graus
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Susanna Asseyer, Nasrin Asgari, Jeffrey Bennett, Omer Bialer, Yolanda Blanco, Francesca Bosello., Anna Camos-Carreras., Edgar Carnero Contentti., Sara Carta, John Chen, Claudia Chien, Mashina Chomba, Russell C. Dale, Josep Dalmau, Kristina Feldmann, Eoin P. Flanagan, Caroline Froment Tilikete, Carolina Garcia-Alfonso, Joachim Havla, Mark Hellmann, Ho Jin Kim, Philipp Klyscz, Frank Konietschke, Chiara La Morgia, Marco Lana-Peixoto, Maria Isabel Leite, Netta Levin, Michael Levy, Sara Llufriu, Pablo Lopez, Itay Lotan, Alessandra Lugaresi, Romain Marignier, Sara Mariotto, Susan P. Mollan, Cassandra Ocampo, Frederike Cosima Oertel, Maja Olszewska, Jacqueline Palace, Lekha Pandit, Jose Luis Peralta Uribe, Sean Pittock, Sudarshini Ramanathan, Natthapon Rattanathamsakul, Albert Saiz, Sara Samadzadeh, Bernardo Sanchez-Dalmau, Deanna Saylor, Michael Scheel, Tanja Schmitz-Huebsch, Jemal Shifa, Sasitorn Siritho, Pia S. Sperber, Prem S. Subramanian, Alon Tiosano, Adi Vaknin-Dembinsky, Alvaro Jose Mejia Vergara, Adi Wilf-Yarkoni, Luis Alfonso Zarco, Hanna G. Zimmermann, Friedemann Paul, Hadas Stiebel-Kalish
Summary: This is a global study aimed at investigating the effect of early high-dose corticosteroid treatment on optic neuritis. The study will collect various data to evaluate treatment strategies and the accuracy of diagnostic criteria.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Thais Armangue, Gemma Olive-Cirera, Eugenia Martinez-Hernandez, Maria Rodes, Vicente Peris-Sempere, Mar Guasp, Raquel Ruiz, Eduard Palou, Azucena Gonzalez, Ma angeles Marcos, Maria Elena Erro, Luis Bataller, Inigo Corral-Corral, Jesus Planaguma, Eva Caballero, Alexandru Vlagea, Jie Chen, Paul Bastard, Marie Materna, Astrid Marchal, Laurent Abel, Aurelie Cobat, Laia Alsina, Claudia Fortuny, Albert Saiz, Emmanuel Mignot, Adeline Vanderver, Jean-Laurent Casanova, Shen-Ying Zhang, Josep Dalmau, Spanish HSE Study Grp
Summary: Patients with herpes simplex virus encephalitis often develop neuronal autoantibody-associated encephalitis post-infection. This study found that risk factors for post-HSE AE may include genetic variants, HLA haplotypes, and the blood innate immune response against HSV. These findings have potential clinical applications for the diagnosis and monitoring of HSE complications.
Correction
Immunology
Jon Landa, Ana Beatriz Serafim, Carles Gaig, Albert Saiz, Inga Koneczny, Romana Hoftberger, Joan Santamaria, Josep Dalmau, Francesc Graus, Lidia Sabater
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Josep Dalmau, Francesc Graus
Summary: Increased awareness of autoimmune encephalitis has led to misdiagnoses and inappropriate use of diagnostic criteria for antibody-negative disease. Misdiagnoses occur due to non-adherence to clinical requirements, inadequate assessment, and limited use of assays. Clinicians should adhere to published criteria and substantiate absence of neural antibodies. Accurate diagnosis will help assess treatment response and outcomes.
