Article
Clinical Neurology
Ashvin Kuri, Nicola Vickaryous, Amine Awad, Benjamin Meir Jacobs, Ruth Dobson
Summary: This study demonstrates that vD supplementation is the major determinant of vD levels in people with MS, with genetic factors playing a smaller role.
JOURNAL OF NEUROLOGY
(2023)
Editorial Material
Medicine, General & Internal
Christian Muenz
Summary: Multiple sclerosis is an inflammatory autoimmune demyelinating disease that predominantly affects young adults, especially women, with genetic and environmental factors playing a role in its development. The major histocompatibility complex II gene locus and altered immune responses to the Epstein Barr virus are significant risk factors for the disease.
Article
Clinical Neurology
Akash Kapali, Anne Kjersti Daltveit, Kjell-Morten Myhr, Kjetil Bjornevik, Elisa Baldin, Maura Pugliatti, Trond Riise, Marianna Cortese
Summary: Previous studies have shown inconsistent results regarding the association between birth by caesarean section (CS) and the risk of developing multiple sclerosis (MS) in the offspring. This population-based cohort study found a modestly higher risk of MS in individuals born by CS, but confounding factors may underlie these associations.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Immunology
Chunyu Li, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Huifang Shang
Summary: Multiple epidemiological studies have shown an association between physical activity and the risk of multiple sclerosis (MS), with moderate physical activity appearing to reduce the risk of MS.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Psychology, Multidisciplinary
Marialaura Di Tella, Virginia Perutelli, Giuseppina Miele, Luigi Lavorgna, Simona Bonavita, Stefania Federica De Mercanti, Lidia Mislin Streito, Marinella Clerico, Lorys Castelli
Summary: This study aims to provide an in-depth evaluation of family functioning and related factors in patients with Multiple Sclerosis (MS) and their families. The study will investigate the perceived quality of family functioning, dyadic relationships, and parental bonding, as well as the possible associations with alexithymia, psychological distress, and social support. The results will shed light on the family dynamics in the MS population, helping clinicians and researchers better understand these aspects.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Immunology
Hui Lu, Peng-Fei Wu, Wan Zhang, Xiaoyao Liao
Summary: The study found that genetically determined circulating levels of IL-2R alpha were significantly associated with the risk of Multiple Sclerosis (MS) through Mendelian randomization analysis. Other interleukins did not show a significant causal relationship with MS risk.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Zahoor Parray, Mahrukh H. Zargar, Ravouf Asimi, Waseem R. Dar, Arjimand Yaqoob, Adnan Raina, Hilal Ganie, Maqbool Wani, Zafar A. Shah
Summary: This study found that IL-32 gene promoter polymorphism is a genetic risk factor for multiple sclerosis patients, especially women. The presence of CC genotype and C allele may increase the susceptibility to multiple sclerosis.
Article
Clinical Neurology
Shuai Yuan, Ying Xiong, Susanna C. Larsson
Summary: The study found that childhood and adulthood body mass index were positively associated with MS, while physical activity and serum 25-hydroxyvitamin D were inversely associated with MS. Additionally, possible associations were found for type 2 diabetes, waist circumference, body fat percentage, age of puberty, and high-density lipoprotein cholesterol in relation to MS. Data from systematic review suggested that exposure to organic solvents, Epstein Barr virus and cytomegalovirus infection, and diphtheria and tetanus vaccination were also associated with MS risk.
JOURNAL OF NEUROLOGY
(2021)
Review
Medicine, General & Internal
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Summary: Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder, but genetic diseases like CADASIL and leukodystrophies may be misdiagnosed as MS, leading to delayed treatment.
POSTGRADUATE MEDICINE
(2021)
Article
Immunology
Ali Manouchehrinia, Jesse Huang, Jan Hillert, Lars Alfredsson, Tomas Olsson, Ingrid Kockum, Cris S. Constantinescu
Summary: Tobacco smoking is an important modifiable environmental risk factor for multiple sclerosis (MS) risk. The study shows that at least 13% of MS cases could be prevented through the avoidance of tobacco smoking, representing a large population in absolute number.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Elena Putscher, Michael Hecker, Brit Fitzner, Nina Boxberger, Margit Schwartz, Dirk Koczan, Peter Lorenz, Uwe Klaus Zettl
Summary: This study found that genetic variants from MS risk loci affect pre-mRNA splicing. These findings substantiate the role of alternative splicing events in the genetics of MS. Further research on how disease-causing genetic variants modify the interactions between splicing regulatory sequence elements and RNA-binding proteins can help deepen our understanding of the genetic susceptibility to MS.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Immunology
Fangkun Yang, Teng Hu, Kewan He, Jiajun Ying, Hanbin Cui
Summary: By using Mendelian randomization analysis, this study found evidence of a causal association between multiple sclerosis (MS) and an increased risk of coronary artery disease, myocardial infarction, heart failure, and stroke. These findings emphasize the importance of actively monitoring and preventing cardiovascular risk in MS patients.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Torbjorn Akerstedt, Tomas Olsson, Lars Alfredsson, Anna Karin Hedstroem
Summary: Insufficient sleep and low sleep quality may increase the risk of developing multiple sclerosis.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Environmental Sciences
Farren B. S. Briggs, Corriene Sept
Summary: The study applied association rule mining to genetic data of non-Latinx MS cases and controls, revealing specific combinations of MS risk variants disproportionately confer elevated risk. By applying a robust analytical framework, the study demonstrated evidence of higher order genetic relationships in MS.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Clinical Neurology
Hengameh Shams, Xiaorong Shao, Adam Santaniello, Gina Kirkish, Adil Harroud, Qin Ma, Noriko Isobe, Catherine Schaefer, Jacob L. McCauley, Bruce A. C. Cree, Alessandro Didonna, Sergio E. Baranzini, Nikolaos A. Patsopoulos, Stephen L. Hauser, Lisa F. Barcellos, Roland G. Henry, Jorge R. Oksenberg
Summary: Polygenic inheritance plays a pivotal role in multiple sclerosis susceptibility. The development of polygenic risk scores (PRS) can assess disease status and severity, providing enhanced risk assessment and radiographic outcomes. This study indicates important associations of PRS with risk assessment and tissue injury outcomes, potentially informing targeted screening and prevention strategies.
Article
Oncology
Marco Dicanio, Matteo Giaccherini, Alyssa Clay-Gilmour, Angelica Macauda, Juan Sainz, Mitchell J. Machiela, Malwina Rybicka-Ramos, Aaron D. Norman, Agata Tyczynska, Stephen J. Chanock, Torben Barington, Shaji K. Kumar, Parveen Bhatti, Wendy Cozen, Elizabeth E. Brown, Anna Suska, Eva K. Haastrup, Robert Z. Orlowski, Marek Dudzinski, Ramon Garcia-Sanz, Marcin Kruszewski, Joaquin Martinez-Lopez, Katia Beider, Elzbieta Iskierka-Jazdzewska, Matteo Pelosini, Sonja Berndt, Malgorzata Razny, Krzysztof Jamroziak, S. Vincent Rajkumar, Artur Jurczyszyn, Annette Juul Vangsted, Pilar Garrido Collado, Ulla Vogel, Jonathan N. Hofmann, Mario Petrini, Aleksandra Butrym, Susan L. Slager, Elad Ziv, Edyta Subocz, Graham G. Giles, Niels Frost Andersen, Grzegorz Mazur, Marzena Watek, Fabienne Lesueur, Michelle A. T. Hildebrandt, Daria Zawirska, Lene Hyldahl Ebbesen, Herlander Marques, Federica Gemignani, Charles Dumontet, Judit Varkonyi, Gabriele Buda, Arnon Nagler, Agnieszka Druzd-Sitek, Xifeng Wu, Katalin Kadar, Nicola J. Camp, Norbert Grzasko, Rosalie G. Waller, Celine Vachon, Federico Canzian, Daniele Campa
Summary: The aim of this study was to identify novel pleiotropic variants involved in multiple myeloma (MM) risk. Through analysis of 28,684 single nucleotide polymorphisms (SNPs), DNAJB4-rs34517439-A was found to be associated with an increased risk of developing MM.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Clinical Neurology
Kazunori Iwao, Mitsuru Watanabe, Takahiko Mukaino, Takayuki Fujii, Ryo Yamasaki, Noriko Isobe
Summary: This case study reports on a 30-year-old woman who presented with psychological symptoms and was later diagnosed with anti-NMDAR encephalitis and chromosomally integrated human herpesvirus 6 (ciHHV6). The patient had an ovarian teratoma, anti-NMDAR antibodies, and HHV6-DNA in her serum and cerebrospinal fluid. Treatment with laparoscopic oophorectomy and immunotherapy improved her symptoms and HHV6-DNA was detected in her oral mucosa cells. This case highlights the importance of differentiating between HHV6 infection and ciHHV6 when HHV6-DNA is detected in the cerebrospinal fluid of encephalitis patients.
NEUROLOGY AND CLINICAL NEUROSCIENCE
(2023)
Article
Clinical Neurology
Yuji Nishimura, Katsuhisa Masaki, Dai Matsuse, Hiroo Yamaguchi, Tatsunori Tanaka, Eriko Matsuo, Shotaro Hayashida, Mitsuru Watanabe, Takuya Matsushita, Shoko Sadashima, Naokazu Sasagasako, Ryo Yamasaki, Noriko Isobe, Toru Iwaki, Jun-Ichi Kira
Summary: The pathological hallmark of multiple system atrophy (MSA) is the accumulation of phosphorylated alpha-synuclein in oligodendrocytes, which leads to glial cytoplasmic inclusions. This study investigated the changes in glial connexins (Cxs) in MSA patients and found early and extensive alterations in Cx32, which may contribute to the demyelination and dysfunction in MSA.
Article
Clinical Neurology
Eizo Tanaka, Mitsuru Watanabe, Shoko Fukumoto, Katsuhisa Masaki, Ryo Yamasaki, Takuya Matsushita, Noriko Isobe
Summary: This retrospective observational study found that smoking is associated with disease activity in RRMS patients under oral DMD treatment. Current smokers had higher relapse rates and proportions of any disease activity, as well as shorter time to relapse compared to non-smokers. Therefore, RRMS patients should be advised to quit smoking even after initiating DMDs.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)
Article
Clinical Neurology
Xu Zhang, Jun-Ichi Kira, Hidenori Ogata, Tomohiro Imamura, Mikio Mitsuishi, Takayuki Fujii, Masaki Kobayashi, Kazuo Kitagawa, Yukihiro Namihira, Yusuke Ohya, Guzailiayi Maimaitijiang, Ryo Yamasaki, Yuko Fukata, Masaki Fukata, Noriko Isobe, Yuri Nakamura
Summary: This study aimed to identify new nodal autoantibodies in chronic inflammatory demyelinating polyneuropathy (CIDP), and screened for autoantibodies that bind to mouse sciatic nerves and dorsal root ganglia (DRG) using indirect immunofluorescence (IFA) assays. The main target antigen identified was leucine-rich repeat LGI family member 4 (LGI4), and IgG from patients with CIDP selectively bound to the nodal regions of sciatic nerves and DRG satellite glia. Patients with CIDP who tested positive for IgG4 anti-LGI4 antibodies presented subacute sensory impairment and motor weakness.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Cell Biology
Takashi Irie, Kanae Matsuda-Ito, Taito Matsuda, Takahiro Masuda, Marco Prinz, Noriko Isobe, Kinichi Nakashima
Summary: Neuronal regeneration is crucial for brain repair after injury. Microglia, brain-resident macrophages, have the potential to convert into neurons through the expression of neuronal lineage-specific transcription factors. This study demonstrates that NeuroD1-transduced microglia can successfully be converted into neurons in vitro. The use of a chemical cocktail treatment further promotes the microglia-to-neuron conversion induced by NeuroD1.
Article
Clinical Neurology
David Leppert, Mitsuru Watanabe, Sabine Schaedelin, Fredrik Piehl, Roberto Furlan, Matteo Gastaldi, Jeremy Lambert, Bjorn Evertsson, Katharina Fink, Takuya Matsushita, Katsuhisa Masaki, Noriko Isobe, Jun-ichi Kira, Pascal Benkert, Aleksandra Maceski, Eline Willemse, Johanna Oechtering, Annette Orleth, Stephanie Meier, Jens Kuhle
Summary: This study aimed to determine the differences in granulocyte activation markers (GAM) between neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS), and whether they are associated with neurological impairment. The results showed that GAM and adhesion molecules were higher in acute NMOSD compared to RRMS and correlated with clinical disability scores. The composite of GAM can be used as a reliable biomarker to differentiate NMOSD from MS, including aAQP4(-) NMOSD.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Stanislas Demuth, Joris Mueller, Veronique Quenardelle, Valerie Lauer, Roxana Gheoca, Malwina Trzeciak, Irene Pierre-Paul, Jerome De Seze, Pierre-Antoine Gourraud, Valerie Wolff
Summary: Strokecopilot is a literature-based clinical decision support system developed to assist neurologists in managing the acute phase of AIS. By providing information and outcomes of reference populations that match patient characteristics, the system helps neurologists make evidence-based medical reasoning to determine the indications of intravenous thrombolysis and endovascular treatments.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Yann Le Guen, Guo Luo, Aditya Ambati, Vincent Damotte, Iris Jansen, Eric Yu, Aude Nicolas, Itziar de Rojasj, Thiago Peixoto Leal, Akinori Miyashita, Celine Bellenguez, Michelle Mulan Lian, Kayenat Parveen, Takashi Morizono, Hyeonseul Park, Benjamin Grenier-Boley, Tatsuhiko Naito, Fahri Kucukali, Seth D. Talyansky, Selina Maria Yogeshwar, Vicente Sempere, Wataru Satake, Victoria Alvarez, Beatrice Arosio, Michael E. Belloy, Luisa Benussi, Anne Boland, Barbara Borroni, Maria J. Bullido, Paolo Caffarra, Jordi Clarimon, Antonio Daniele, Daniel Darling, Stephanie Debette, Jean-Francois Deleuze, Martin Dichgans, Carole Dufouil, Emmanuel During, Emrah Duzel, Daniela Galimberti, Guillermo Garcia-Ribas, Jose Maria Garcia-Alberca, Pablo Garcia-Gonzalez, Vilmantas Giedraitis, Oliver Goldhardt, Caroline Graff, Edna Grunblatt, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Henne Holstege, Jakub Hort, Yoo Jin Jung, Deckert Jurgen, Silke Kern, Teemu Kuulasmaa, Kun Ho Lee, Ling Lin, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonca, Merce Boada, Pablo Mir, Susanne Moebus, Fermin Moreno, Benedetta Nacmias, Gael Nicolas, Shumpei Niida, Borge G. Nordestgaard, Goran Papenberg, Janne Papma, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Oliver Peters, Yolande A. L. Pijnenburg, Gerard Pinol-Ripoll, Julius Popp, Laura Molina Porcel, Raquel Puertaj Jordi Perez-Tur, Innocenzo Rainero, Inez Ramakers, Luis M. Real, Steffi Riedel-Heller, Eloy Rodriguez-Rodriguez, Owen A. Ross, Jose Luis Royo, Dan Rujescu, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Ingmar Skoog, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John van Swieten, Raquel Sanchez-Valle, Eng-King Tan, Thomas Tegos, Charlotte Teunissen, Jesper Qvist Thomassen, Lucio Tremolizzo, Martin Vyhnalek, Frans Verhey, Margda Waern, Jens Wiltfang, Jing Zhangc, Henrik Zetterberg, Kaj Blennow, Zihuai He, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick G. Kehoe, Ole A. Andreassen, Cornelia Van Duin, Magda Tsolaki, Pascual Sanchez-Juan, Ruth Frikke-Schmidt, Kristel Sleegers, Tatsushi Todau, Anna Zettergren, Martin Ingelsson, Yukinori Okada, Giacomina Rossi, Mikko Hiltunen, Jungsoo Gim, Kouichi Ozaki, Rebecca Sims, Jia Nee Foo, Wiesje van der Fliere, Takeshi Ikeuchi, Alfredo Ramirez, Ignacio Mata, Agustin Ruiz, Ziv Gan-Or, Jean-Charles Lambert, Michael D. Greicius, Emmanuel Mignot
Summary: We analyzed the HLA associations in individuals with Parkinson's disease and Alzheimer's disease across different ancestry groups and found that these two diseases share a common protective association at the HLA locus. Fine-mapping showed that specific subtypes of HLA-DRB1*04 were responsible for this association, with HLA-DRB1*04:04 and HLA-DRB1*04:07 showing the strongest association. This protective effect was also associated with decreased neurofibrillary tangles in the brain and reduced levels of tau protein in cerebrospinal fluid.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Medicine, General & Internal
Paolo Capuano, Bethany Hileman, Stefano Tigano, Bianca Magro, Vincenzina Lo Re, Rosa Liotta, Marco Sciveres, Giusy Ranucci, Alessio Provenzani, Gaetano Burgio, Cesare Scardulla, Antonio Arcadipane, Gennaro Martucci
Summary: For patients with chronic liver disease (CLD), telemedicine is a useful tool to prevent liver decompensation or hospitalization. However, research and evidence are lacking. This review aims to explore telemonitoring for CLD, describing currently used tools and clinical outcomes.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biology
Satoshi Nagata, Ryo Yamasaki, Ezgi Ozdemir Takase, Kotaro Iida, Mitsuru Watanabe, Katsuhisa Masaki, Marion Heleen Catherine Wijering, Hiroo Yamaguchi, Jun-ichi Kira, Noriko Isobe
Summary: This study demonstrates that iguratimod effectively alleviates clinical symptoms of progressive experimental autoimmune encephalomyelitis by suppressing Th17 migration and inhibiting IL-6 production in proinflammatory-activated glial cells.
Article
Biology
Laura Sparacino, Luca Faes, Gorana Mijatovic, Giuseppe Parla, Vincenzina Lo Re, Roberto Miraglia, Jean de Ville de Goyet, Gianvincenzo Sparacia
Summary: This study presents a methodology for deriving meaningful insights from individual brain signal recordings, focusing on statistical methods that prioritize subject-specific differences under varying experimental conditions. The study confirms the presence of high-order, synergistic subsystems in the brain that can be overlooked by pairwise graph structures, and proposes a multivariate information theory approach to address this limitation.
Article
Pediatrics
Yuko Ichimiya, Pin Fee Chong, Yuri Sonoda, Vlad Tocan, Mitsuru Watanabe, Hiroyuki Torisu, Ryutaro Kira, Toshiyuki Takahashi, Jun-Ichi Kira, Noriko Isobe, Yasunari Sakai, Shouichi Ohga
Summary: This study investigated the clinical features of children with ADS and found that MOG-Ab has a significant impact on the clinical presentation of children with ADS, with MOGAD patients more likely to experience headache and/or somatosensory symptoms.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Cell Biology
Venceslas Douillard, Nayane dos Santos Brito Silva, Sonia Bourguiba-Hachemi, Michel S. Naslavsky, Marilia O. Scliar, Yeda A. O. Duarte, Mayana Zatz, Maria Rita Passos-Bueno, Sophie Limou, Pierre-Antoine Gourraud, Elise Launay, Erick C. Castelli, Nicolas Vince
Summary: Human genomics has advanced rapidly, driving genome-wide association studies (GWASs). However, SNP-based GWASs are limited in capturing the polymorphism of HLA genes. This study evaluated the accuracy of using the 1000 Genomes data as a reference panel to impute HLA genotypes in admixed individuals and highlighted the importance of using genetically specific models for imputation.