Article
Multidisciplinary Sciences
Simone M. Braendle, Manuela Cerina, Susanne Weber, Kathrin Held, Amelie F. Menke, Carmen Alcala, David Gebert, Alexander M. Herrmann, Hannah Pellkofer, Lisa Ann Gerdes, Stefan Bittner, Frank Leypoldt, Bianca Teegen, Lars Komorowski, Tania Kuempfel, Reinhard Hohlfeld, Sven G. Meuth, Bonaventura Casanova, Nico Melzer, Eduardo Beltran, Klaus Dornmair
Summary: Encephalitis associated with antibodies against the neuronal GABA(A)-R is a rare form of autoimmune encephalitis. A study found a significantly expanded B cell clone in the cerebrospinal fluid of a patient with GABA(A)-R encephalitis, producing antibodies that likely contribute to clinical disease symptoms. Additionally, cross-reactivity between GABA(A)-R and the protein LMO5 was identified, supporting the hypothesis of a paraneoplastic etiology in GABA(A)-R encephalitis.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Medical Laboratory Technology
Dimitrios P. Bogdanos, Athanasios Gkoutzourelas, Vasilios Papadopoulos, Christos Liaskos, Eleni Patrikiou, Christina Tsigalou, Athanasios Saratziotis, John Hajiioannou, Thomas Scheper, Wolfgang Meyer, Lazaros Sakkas, Christos Papandreou
Summary: This study found a high prevalence of anti-Ro52 antibodies in patients with ovarian cancer, which was associated with better overall survival. The epitope specificity of these antibodies in ovarian cancer patients differed from that in SLE and SjS ARDs patients, suggesting a unique stimulus for autoantibody production in ovarian cancer.
CLINICA CHIMICA ACTA
(2021)
Article
Clinical Neurology
Akihiko Kudo, Hiroaki Yaguchi, Keiko Tanaka, Akio Kimura, Ichiro Yabe
Summary: A retrospective study was conducted in a Japanese hospital to investigate the clinical features of autoimmune cerebellar ataxia (ACA) and differentiate it from neurodegenerative CA. Among the 243 CA patients enrolled, 13 were diagnosed with ACA. ACA showed less cerebellar atrophy compared to CA but had a higher frequency of CSF pleocytosis. Further studies are needed to identify additional clinical features and accurate diagnostic biomarkers for ACA.
JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Elia Sechi, Eoin P. Flanagan
Summary: Antibody-mediated disorders of the central nervous system (CNS) are a type of neurological diseases that can potentially be reversed with appropriate treatment. The identification of new neural autoantibodies has increased diagnostic precision and helped predict clinical characteristics, potential cancer associations, and treatment responses.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Szonja Gal, Erzsebet Gajdocsi, Esam Khanfar, Katalin Olasz, Diana Simon, Peter Balogh, Timea Berki, Peter Nemeth, Ferenc Boldizsar
Summary: The natural autoantibody (natAAb) network plays a role in immune regulation by reacting with evolutionary conserved antigens without causing tissue destruction. The relation between natAAbs and pathAAbs is not completely understood. In this study, the levels of nat- and pathAAb against three conserved antigens were measured in NZB mice, a spontaneous autoimmune disease model. The levels of natAAbs increased until 6-9 months of age and then decreased, while pathAAbs appeared after six months of age, corresponding with the onset of autoimmune disease. The changes in nat/pathAAb levels were associated with alterations in B1 cells, plasma cells, and memory B cells, suggesting a switch from natAAbs towards pathAAbs in aged NZB mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Christoph Mueller, Lisa M. Langenbruch, Johanna M. H. Rau, Tobias Brix, Christine Strippel, Andre Dik, Kristin S. Golombeck, Constanze Moenig, Saskia J. Raeuber, Stjepana Kovac, Heinz Wiendl, Sven G. Meuth, Jens Boelte, Andreas Johnen, Nico Melzer
Summary: Autoimmune limbic encephalitis (ALE) is the most common form of autoimmune encephalitis (AIE) characterized by memory disturbance, seizures, and psychiatric symptoms. A retrospective analysis on 102 ALE patients found that cognitive functioning was not affected by autoantibody status, but memory functions were influenced by structural and functional alterations, while attentional and executive functions were related to CSF white blood cell count and centrally effective medication.
Article
Clinical Neurology
Divyanshu Dubey, Thomas Kryzer, Yong Guo, Benjamin Clarkson, John C. Cheville, Brian A. Costello, Bradley C. Leibovich, Alicia Algeciras-Schimnich, Claudia Lucchinnetti, M. Bakri Hammami, Andrew M. Knight, Charles Howe, Vanda A. Lennon, Andrew McKeon, Sean J. Pittock
Summary: LUZP4-IgG is a novel serological biomarker of paraneoplastic neurological syndrome (PNS) associated with germ cell tumors, predominantly affecting male patients presenting with rhombencephalitis. The high predictive value of LUZP4-IgG for identifying germ cell tumors was demonstrated in this study. Additionally, antigen-specific T-cell responses suggest a CD8+ T-cell-mediated cytotoxic paraneoplastic and antitumor potential.
ANNALS OF NEUROLOGY
(2021)
Review
Clinical Neurology
Joao Costa Fernandes, Joao Gama Marques
Summary: There is a causal relationship between limbic encephalitis, antibodies, malignant tumors, and psychiatric symptoms, requiring further research.
Article
Critical Care Medicine
Dominic O. O. Co, Jennifer M. M. Kwon
Summary: Autoimmune encephalitis is a rapidly progressive neurological condition with significant morbidity and mortality. Its pathogenesis is diverse and noninfectious, immune-mediated causes have gained increasing recognition. Autoantibody-mediated encephalitis has become a focus of research.
CRITICAL CARE CLINICS
(2022)
Article
Immunology
Sizhu Gong, Yue Han, Enling He, Min Liu, Xiyao Fu, Fang Deng
Summary: This case report highlights the successful early diagnosis and treatment of a patient with paraneoplastic limbic encephalitis associated with anti-SRY-like high-mobility group box-1 and anti-gamma-aminobutyric acid B receptor antibodies. It raises awareness of the importance of detecting underlying malignancy in patients with limbic encephalitis and emphasizes the role of anti-SOX1 antibodies in the detection of small cell lung cancer.
FRONTIERS IN IMMUNOLOGY
(2022)
Editorial Material
Clinical Neurology
Francesc Graus
Summary: This study explores the clinical and immunological features of paraneoplastic cochleovestibulopathy which is associated with cancer.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Clinical Neurology
Xiali Shao, Siyuan Fan, Huan Luo, Ting Yat Wong, Weihong Zhang, Hongzhi Guan, Anqi Qiu
Summary: The study characterized MRI features of anti-LGI1 encephalitis, finding hippocampus and amygdala as lesion hubs, basal ganglia lesions associated with faciobrachial dystonic seizures, and medial temporal lobe lesions correlated with memory impairment.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Rong Yan, Yu Mao, Huiyang Zeng, Qian Liu, Hanqiu Jiang, Jingting Peng, Qingling Yang, Shilei Cui, Lei Liu, Yanjun Guo, Jiawei Wang
Summary: This study reviewed the neuro-ophthalmic findings and outcomes in 5 patients with CRMP5-ON, and found that it often presented with optic disc edema, diffuse defects of the central field, and complications such as vitreitis, retinitis, or uveitis. MRI examination showed optic nerve or perineural optic nerve enhancement, which was associated with tumors. Cancer screening and intervention were crucial for prognosis.
FRONTIERS IN NEUROLOGY
(2023)
Review
Clinical Neurology
Conan Liang, Eleanor Chu, Edward Kuoy, Jennifer E. Soun
Summary: This study provides an overview of the major subtypes of autoimmune encephalitis, their characteristic clinical and imaging features, and highlights several disease processes that may mimic imaging findings of autoimmune encephalitis.
JOURNAL OF NEUROIMAGING
(2023)
Article
Clinical Neurology
S. Gillon, M. Chan, J. Chen, E. L. Guterman, X. Wu, C. M. Glastonbury, Y. Li
Summary: This study evaluated MR imaging findings associated with autoimmune encephalitis and found that most cases had abnormal brain MR imaging at symptom onset, mainly involving the limbic system. Anti-N-methyl-D-aspartate receptor antibodies were the most common antibodies identified.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Medical Laboratory Technology
Scott Ailliet, Rik Vandenberghe, Toon Schiemsky, Lode Van Overbeke, Philippe Demaerel, Wouter Meersseman, David Cassiman, Pieter Vermeersch
Summary: This case report describes a late-onset vitamin B12 deficiency, which typically presents with normal serum vitamin B12 concentrations but exhibits neurologic and psychiatric symptoms. The patient's symptoms worsened over time and further testing revealed elevated plasma homocysteine and methylmalonic acid, leading to a diagnosis of adult-onset cobalamin C deficiency.
Article
Radiology, Nuclear Medicine & Medical Imaging
Mariska Reinartz, Emma Susanne Luckett, Jolien Schaeverbeke, Steffi De Meyer, Katarzyna Adamczuk, Dietmar Rudolf Thal, Koen Van Laere, Patrick Dupont, Rik Vandenberghe
Summary: The study validated the use of SVM-based classifier in cognitively healthy older adults, with the best performance found in a classifier trained based on amyloid phases. Precuneus, caudate, and other brain regions were identified with the highest feature weights.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
Article
Clinical Neurology
Arabella Bouzigues, Lucy L. Russell, Georgia Peakman, Martina Bocchetta, Caroline Greaves, Rhian S. Convery, Emily Todd, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R. Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonca, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D. Rohrer
Summary: This study finds that MAPT mutation carriers develop early naming impairments likely associated with semantic knowledge deficits, while C9orf72 and GRN mutation carriers can have more widespread brain atrophy.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Aurore Delvenne, Johan Gobom, Betty Tijms, Isabelle Bos, Lianne M. Reus, Valerija Dobricic, Mara Ten Kate, Frans Verhey, Inez Ramakers, Philip Scheltens, Charlotte E. Teunissen, Rik Vandenberghe, Jolien Schaeverbeke, Silvy Gabel, Julius Popp, Gwendoline Peyratout, Pablo Martinez-Lage, Mikel Tainta, Magda Tsolaki, Yvonne Freund-Levi, Simon Lovestone, Johannes Streffer, Frederik Barkhof, Lars Bertram, Kaj Blennow, Henrik Zetterberg, Pieter Jelle Visser, Stephanie J. B. Vos
Summary: The pathophysiology of MCI-SNAP is distinct from that of MCI-AD, highlighting the need for different treatment approaches.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Wenting Guo, Haibo Wang, Arun Kumar Tharkeshwar, Julien Couthouis, Elke Braems, Pegah Masrori, Evelien Van Schoor, Yannan Fan, Karan Ahuja, Matthieu Moisse, Maarten Jacquemyn, Rodrigo Furtado Madeiro da Costa, Madhavsai Gajjar, Sriram Balusu, Tine Tricot, Laura Fumagalli, Nicole Hersmus, Rekin's Janky, Francis Impens, Pieter Vanden Berghe, Ritchie Ho, Dietmar Rudolf Thal, Rik Vandenberghe, Muralidhar L. Hegde, Siddharthan Chandran, Bart De Strooper, Dirk Daelemans, Philip Van Damme, Ludo Van den Bosch, Catherine Verfaillie
Summary: In this study, we identified NEK6 as a novel therapeutic target for C9orf72 FTD/ALS by performing a kinome-wide CRISPR/Cas9 knock-out screen in human induced pluripotent stem cell-derived cortical neurons. NEK6 was found to regulate poly(PR)-mediated p53-related DNA damage.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Jiaze Sun, Francois-Laurent De Winter, Fiona Kumfor, Daphne Stam, Kristof Vansteelandt, Ron Peeters, Stefan Sunaert, Rik Vandenberghe, Mathieu Vandenbulcke, Jan Van den Stock
Summary: This study explores the presence of neural functional compensation in the manifest stage of neurodegenerative diseases. The results suggest that compensatory processes can still occur in clinically manifest neurodegeneration, and these processes may operate along nodes in intrinsically connected networks. The findings highlight the potential of using multidimensional neural markers as novel biomarkers for diagnosis and therapy.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Sebastiaan Moonen, Marta J. Koper, Evelien Van Schoor, Jolien M. Schaeverbeke, Rik Vandenberghe, Christine A. F. von Arnim, Thomas Tousseyn, Bart De Strooper, Dietmar Rudolf Thal
Summary: The study investigated the contribution of pyroptosis, a pro-inflammatory mechanism of cell death downstream of the inflammasome, to neurodegeneration in Alzheimer's disease (AD). The findings suggest the activation of pyroptosis in specific cell types and its potential link to neuron death in AD.
ACTA NEUROPATHOLOGICA
(2023)
Article
Clinical Neurology
David J. Whiteside, Maura Malpetti, P. Simon Jones, Boyd C. P. Ghosh, Ian Coyle-Gilchrist, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, Arabella Bouzigues, Lucy L. Russell, Jonathan D. Rohrer, James B. Rowe, Timothy Rittman
Summary: This study investigated the role of changes in functional networks in predicting cognitive decline and conversion to symptomatic disease in familial frontotemporal dementia (FTD). The study found a characteristic pattern of dynamic network changes in FTD, which were correlated with neuropsychological impairment. Among presymptomatic mutation carriers, this pattern of network dynamics was more prominent in those who later converted to the symptomatic phase. Baseline network dynamic changes predicted future cognitive decline in symptomatic participants and older presymptomatic participants.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Elizabeth Finger, Rubina Malik, Martina Bocchetta, Kristy Coleman, Caroline Graff, Barbara Borroni, Mario Masellis, Robert Laforce, Caroline Greaves, Lucy L. Russell, Rhian S. Convery, Arabella Bouzigues, David M. Cash, Markus Otto, Matthis Synofzik, James B. Rowe, Daniela Galimberti, Pietro Tiraboschi, Robert Bartha, Christen Shoesmith, Maria Carmela Tartaglia, John C. van Swieten, Harro Seelaar, Lize C. Jiskoot, Sandro Sorbi, Chris R. Butler, Alexander Gerhard, Raquel Sanchez-Valle, Alexandre de Mendonca, Fermin Moreno, Rik Vandenberghe, Isabelle Le Ber, Johannes Levin, Florence Pasquier, Isabel Santana, Jonathan D. Rohrer, Simon Ducharme
Summary: This study investigates the hypothesis that genetic mutations causing frontotemporal dementia (FTD) have neurodevelopmental consequences. The researchers examined brain structure and function in young adult mutation carriers and found differences between preclinical mutation carriers and familial non-carriers at a mean age of 26 years. These findings have implications for therapeutic interventions and further studies on early pathophysiologic processes in FTD.
Article
Neuroimaging
Emma S. Luckett, Jolien Schaeverbeke, Steffi De Meyer, Katarzyna Adamczuk, Koen Van Laere, Patrick Dupont, Rik Vandenberghe
Summary: This study examined the importance of measuring longitudinal changes in amyloid load in the asymptomatic stage of Alzheimer's disease and determined the optimal regions of interest and reference regions for this measurement. The results showed that using the whole cerebellum or cerebellar grey matter as reference regions could best detect the effect of the APOE4 gene on longitudinal amyloid load.
NEUROIMAGE-CLINICAL
(2023)
Article
Linguistics
Antonietta Gabriella Liuzzi, Karen Meersmans, Gerrit Storms, Simon De Deyne, Patrick Dupont, Rik Vandenberghe
Summary: The study found that co-occurrence-based similarities calculated by predictive natural language processing models are not good at representing affective content but are powerful in their own way. The functional and neuroanatomical relationship between these two distinct ways of representing word meaning was investigated. The findings revealed a correlation between affective similarities and word embedding similarities in specific regions of the superior temporal sulcus.
NEUROBIOLOGY OF LANGUAGE
(2023)
Proceedings Paper
Acoustics
Bastiaan Tamm, Rik Vandenberghe, Hugo Van Hamme
Summary: This paper focuses on the performance analysis of a pre-trained model in speech quality assessment. The study identifies two optimal regions, lower-level features and high-level features, and explores their differences and potential reasons. Additionally, the paper attempts to fuse the two optimal feature depths and assesses the performance of the proposed models.
2023 IEEE WORKSHOP ON APPLICATIONS OF SIGNAL PROCESSING TO AUDIO AND ACOUSTICS, WASPAA
(2023)
Article
Clinical Neurology
Kirsten E. J. Wesenhagen, Johan Gobom, Isabelle Bos, Stephanie J. B. Vos, Pablo Martinez-Lage, Julius Popp, Magda Tsolaki, Rik Vandenberghe, Yvonne Freund-Levi, Frans Verhey, Simon Lovestone, Johannes Streffer, Valerija Dobricic, Lars Bertram, Kaj Blennow, Maria Pikkarainen, Merja Hallikainen, Johanna Kuusisto, Markku Laakso, Hilkka Soininen, Philip Scheltens, Henrik Zetterberg, Charlotte E. Teunissen, Pieter Jelle Visser, Betty M. Tijms
Summary: This study aimed to understand the changes in cerebrospinal fluid proteomics with aging and their associations with Alzheimer's disease risk. The results showed that while some proteins decreased with age in individuals with amyloid abnormalities, others increased independently of amyloid status, and were associated with immune and signaling processes.
ALZHEIMER'S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING
(2022)
Article
Clinical Neurology
Rose Bruffaerts, Dorothy Gors, Alicia Barcenas Gallardo, Mathieu Vandenbulcke, Philip Van Damme, Paul Suetens, John C. van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Alexandre de Mendonca, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Jonathan D. Rohrer, Patrick Dupont, Peter Claes, Rik Vandenberghe
Summary: This study explored structural brain changes in the asymptomatic stage of monogenic frontotemporal degeneration using hierarchical spectral clustering. The results demonstrated that this method could detect additional changes compared to conventional methods, providing a more comprehensive understanding of the disease progression.
BRAIN COMMUNICATIONS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Emma Susanne Luckett, Jolien Schaeverbeke, Lars Bertram, Koen Van Laere, Patrick Dupont, Isabell Cleynen, Rik Vandenberghe
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
