Article
Clinical Neurology
Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykko, Antti Makitie
Summary: The purpose of this study was to identify genetic variants associated with immune regulation in Meniere's disease. Whole genome sequencing of 16 Chinese patients revealed multiple genetic variants involved in immune regulation, which may make patients susceptible to autoimmune and inflammatory reactions under internal stress.
FRONTIERS IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki, Noriko Togashi, Teruyuki Ishikura, Makoto Kinoshita, Yusuke Mitani, Yonehiro Kanemura, Tsuyoshi Omi, Naoki Ando, Ayako Hattori, Shinji Saitoh, Yukihiro Kitai, Satori Hirai, Hiroshi Arai, Fumihiko Ishida, Hidetoshi Taniguchi, Yasuji Kitabatake, Keiichi Ozono, Shin Nabatame, Robert Smigiel, Mitsuhiro Kato, Koichi Tanda, Yoshihiko Saito, Akihiko Ishiyama, Yushi Noguchi, Mazumi Miura, Takaaki Nakano, Keiko Hirano, Ryoko Honda, Ichiro Kuki, Jun-ichi Takanashi, Akihito Takeuchi, Tatsuya Fukasawa, Chizuru Seiwa, Atsuko Harada, Yusuke Yachi, Hiroyuki Higashiyama, Hiroshi Terashima, Tadayuki Kumagai, Satoshi Hada, Yoshiichi Abe, Etsuko Miyagi, Yuri Uchiyama, Atsushi Fujita, Eri Imagawa, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Summary: Pathogenic COL4A1/2 variants were detected in 56 individuals out of 218 suspected cases of COL4A1/2-related brain defects. Prenatal ultrasound abnormalities were found in individuals with these variants, often involving brain defects, extracranial anomalies, and fetal growth restriction.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Clinical Neurology
Thi Tuyet Dieu Ngo, Rodney A. Lea, Neven Maksemous, David A. Eccles, Robert A. Smith, Paul J. Dunn, Van Cao Thao, Thi Minh Thi Ha, Chi Bao Bui, Larisa M. Haupt, Rodney Scott, Lyn R. Griffiths
Summary: The study evaluated the MinION as a cost-effective platform for genetic diagnostic testing, showing high reliability in detecting missense mutations in the SCN1A gene but limited capability in detecting insertions/deletions (INDELs).
Article
Hematology
Xueqing Dou, Wenhui Zhang, Man-Chiu Poon, Xinsheng Zhang, Runhui Wu, Xiaoqin Feng, Linhua Yang, Peng Cheng, Shu Chen, Ying Wang, Hu Zhou, Meijuan Huang, Yanping Song, Chenghao Jin, Donglei Zhang, Lingling Chen, Wei Liu, Lei Zhang, Feng Xue, Renchi Yang
Summary: This study investigates the risk factors and management experience of factor FIX inhibitors in Chinese patients with hemophilia B. The researchers found that large deletions in the F9 gene were significantly associated with inhibitor development. Additionally, low-dose immune tolerance induction therapy may be a feasible approach for eradicating FIX inhibitors.
Article
Hematology
Yin Feng, Qianqian Li, Panlai Shi, Ning Liu, Xiangdong Kong, Ruixia Guo
Summary: This study characterized the mutation spectrum of the F8 gene in 478 Chinese families with Hemophilia A, identifying 237 different mutations, including 146 known mutations and 91 novel mutations. Prenatal diagnosis accurately determined the F8 gene status of fetuses at risk of having HA.
Article
Genetics & Heredity
Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lazaro, Jessica Gu, Jamie Goltz, Dakota Kleinman, Abdul Noor, Sam Khalouei, Chloe Mighton, Emma Reble, Rita Kodida, Yvonne Bombard, Stephanie DiTroia, Samantha Baxter, Nicholas Watkins, Melanie Care, Arnon Adler, Sheri Horsburgh, Oana Morar, Jillian Murphy, Dayna-Lynn Nevay, Marta Szybowska, Melyssa Aronson, Seema Panchal, Ruth Godoy, Spring Holter, Susan Randall Armel, Kara Semotiuk, Christine Elser, Raymond H. Kim, David Chitayat, Joyce So, Hanna Faghfoury, Josh Silver, Chantal F. Morel, Jordan Lerner-Ellis
Summary: This study evaluated the diagnostic utility of exome and genome sequencing in adults, demonstrating a significant increase in diagnostic yield and supporting the use of this technology.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Thiloka E. Ratnaike, Daniel Greene, Wei Wei, Alba Sanchis-Juan, Katherine R. Schon, Jelle van den Ameele, Lucy Raymond, Rita Horvath, Ernest Turro, Patrick F. Chinnery
Summary: Diagnosing mitochondrial disorders is challenging due to overlapping clinical phenotypes with other disorders, but the MitoPhen database, utilizing HPO for objective clinical comparison, can improve diagnostic accuracy for rare variants.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Thiloka E. Ratnaike, Daniel Greene, Wei Wei, Alba Sanchis-Juan, Katherine R. Schon, Jelle van den Ameele, Lucy Raymond, Rita Horvath, Ernest Turro, Patrick F. Chinnery
Summary: Diagnosing mitochondrial disorders is challenging due to clinical phenotypic overlap with other conditions and genetic heterogeneity. The MitoPhen database provides an objective way to define mtDNA clinical syndromes, identify under-recognized phenotypes, and offer a reference dataset for clinical comparison. Using HPO-based phenotype similarity scores, rare disease patients can be distinguished with high sensitivity, paving the way for improved predictions with more patient data in the database.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Genetics & Heredity
Yanan Sun, Songyan Ma, Juan Xiao, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Shufang Li, Ling Feng, Suhua Chen
Summary: This study aimed to clarify the acceptance rate of SMA gene screening and SMA carrier rate among reproductive age women in the Wuhan area of China. The results showed a positive attitude toward general screening for SMA carriers among women of reproductive age, indicating the necessity and feasibility of screening for SMA carriers in this population.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Medicine, General & Internal
Ki-Young Yoo, Soo-Young Jung, Jin-Young Choi, Hye-Ryeon Park, Young-Shil Park
Summary: This study investigated the validity of FVIII:C/VWF:Ag ratio and FVIII:C analyses as screening tests for haemophilia A carriers. The results showed that the FVIII:C/VWF:Ag ratio had high specificity but may also induce false-negative results.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Plant Sciences
Ava Medberry, Ioannis E. Tzanetakis
Summary: In 2020, a novel virus closely related to lettuce necrotic yellows virus, named strawberry virus 2 (StrV-2), was discovered in strawberry and studied in-depth. The complete StrV-2 genome was obtained and investigated in silico. Transmission was assessed using two aphid species, and a multiplex RT-PCR test was developed for screening the NCGR Fragaria virus collection.
Review
Medicine, General & Internal
Maria Hammer Moellgaard, Ida Charlotte Bay Lund, Naja Becher, Anne-Bine Skytte, Lotte Andreasen, Malgorzata Ilona Srebniak, Ida Vogel
Summary: Complex abnormal non-invasive prenatal test (NIPT) results can be caused by maternal malignancy such as breast cancer, and follow-up invasive samples are essential for accurate fetal diagnosis.
CLINICAL CASE REPORTS
(2022)
Article
Genetics & Heredity
Yiming Qi, Xueqi Ji, Hongke Ding, Yunan Wang, Xin Liu, Yan Zhang, Aihua Yin
Summary: This study investigated six affected fetuses from three families and comprehensively observed the serial phenotypic spectrum of TTN, as well as discussed the genotype-phenotype correlations. The recognizable prenatal feature of TTN variant included reduced movement in the second trimester, followed by contracture, presence/absence of hydrops, and polyhydramnios or oligohydramnios in late pregnancy. The study also identified specific variants and their transcriptional consequences, as well as discussed the milder phenotype observed in one case due to the involvement of a specific isoform.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Summary: This study evaluated the diagnostic yield of exome sequencing (ES) in individuals of European and underrepresented minority (URM) and underserved (US) patients. The results showed a higher diagnostic rate in pediatric patients compared to prenatal patients, but there was no significant difference in diagnostic yield or inconclusive findings between URM/non-URM and US/non-US patients. These findings support the use of ES to identify clinically relevant variants in patients from diverse populations.
NPJ GENOMIC MEDICINE
(2023)
Article
Agronomy
Maria de la O. Leyva-Perez, Lea Vexler, Stephen Byrne, Corentin R. Clot, Fergus Meade, Denis Griffin, Tom Ruttink, Jie Kang, Dan Milbourne
Summary: We have developed a novel low-cost genome-scanning marker platform called PotatoMASH. By using multiplex amplicon sequencing, PotatoMASH efficiently analyzes 339 multi-allelic regions in the potato genome and has been successfully applied to over 700 potato lines. PotatoMASH is able to diagnose pest-resistance markers, detect quantitative trait loci, and track genetic variation.
Review
Clinical Neurology
Trygve Holmoy, Rune Alexander Hoglund, Zsolt Illes, Kjell-Morten Myhr, Oivind Torkildsen
Summary: For NMOSD patients, monoclonal antibodies that deplete B cells or interfere with interleukin 6 signaling have superior efficacy compared to placebo; Rituximab, tocilizumab, and to some extent eculizumab have well-known safety profiles; Rituximab and azathioprine may be safe during pregnancy.
JOURNAL OF NEUROLOGY
(2021)
Article
Oncology
Mark Vaczi, Szilvia Anett Nagy, Tamas Koszegi, Bernadette Misovics, Edina Szabo, Eva Muller, Gabor Perlaki, Gergely Orsi, Jozsef Pal, Peter Bogner, Zsolt Illes
Summary: The study showed that resistance exercise does not worsen exercise-induced muscle damage in patients with late-onset Pompe disease, however, monitoring lactate dehydrogenase levels may help identify high responders during high intensity resistance exercise interventions.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
Review
Neurosciences
Francesca Boscia, Maria Louise Elkjaer, Zsolt Illes, Maria Kukley
Summary: While significant progress has been made in understanding the pathophysiology of multiple sclerosis (MS), knowledge about the role of ion channels in progressive MS remains incomplete. Recent studies have shown significant dysregulation of ion channel genes in WM lesions, which may be linked to neuronal excitability, altered inhibitory neurotransmission, and increased excitability.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Immunology
Zsofia Hayden, Szabina Erdo-Bonyar, Beata Bone, Noemi Balazs, Kornelia Bodo, Zsolt Illes, Timea Berki, Diana Simon
Summary: This study found differences in the proportions of naive and memory B cells in NMOSD and MS patients. The expression of CD180 was decreased in NS memory B cells in both diseases compared to healthy controls. Levels of anti-CS IgM natural autoantibodies were lower in both NMOSD and MS, while levels of anti-CS IgG natural autoantibodies showed an increasing trend in patients positive for anti-Chlamydia IgG antibodies.
JOURNAL OF IMMUNOLOGY RESEARCH
(2021)
Article
Clinical Neurology
Gergely Orsi, Tamas Cseh, Zsofia Hayden, Gabor Perlaki, Szilvia Anett Nagy, Omar Giyab, Dorte Aalund Olsen, Jonna Skov Madsen, Timea Berki, Zsolt Illes
Summary: The study revealed that levels of osteopontin (OPN) in both serum and cerebrospinal fluid (CSF) are associated with lesion evolution, changes in normal-appearing white matter (NAWM) microstructure, and functional connectivity in multiple sclerosis (MS) patients. Additionally, neurofilament light chain (NFL) levels in CSF were associated with decreased connectivity strength, while OPN levels in the CSF were associated with increased connectivity strength, possibly indicating adaptive reorganization due to inflammatory white matter lesions and microstructural changes.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2021)
Article
Clinical Neurology
Asta Theodorsdottir, Pia Veldt Larsen, Helle Hvilsted Nielsen, Zsolt Illes, Mads Henrik Ravnborg
Summary: In patients with secondary progressive MS (SPMS), the Multiple Sclerosis Impairment Scale (MSIS) correlated with functional motor tests. MSIS had stronger correlations with atrophy of central nervous system areas and may be more sensitive in assessing cerebellar and sensory function compared to the Expanded Disability Status Scale (EDSS).
ACTA NEUROLOGICA SCANDINAVICA
(2022)
Article
Immunology
Reka Varnai, Tihamer Molnar, Laszlo Zavori, Margit Tokes-Fuzesi, Zsolt Illes, Andrea Kanizsai, Peter Csecsei
Summary: This study found that antibody titers were associated with the severity of symptoms and remission status in long COVID patients. The immune response against SARS-CoV-2 nucleocapsid may play a more important role than the spike protein.
Article
Immunology
Keld-Erik Byg, Zsolt Illes, Tobias Sejbaek, Kate L. Lambertsen, Torkell Ellingsen, Helle H. Nielsen
Summary: Neurosarcoidosis patients have significantly elevated levels of cytokines, chemokines, vascular angiogenesis, and vascular injury biomarkers in cerebrospinal fluid (CSF) and plasma.
JOURNAL OF NEUROIMMUNOLOGY
(2022)
Article
Immunology
Maria L. Elkjaer, Richard Roettger, Jan Baumbach, Zsolt Illes
Summary: Multiple sclerosis is an inflammatory disease of the central nervous system, and there is still a lack of understanding about its pathological process and predictive biomarkers for disease progression. Novel viewpoints in systems biology offer a better understanding of key pathological pathways, but there are still unanswered questions. Research has discovered several molecules and networks that may contribute to the pathogenesis of multiple sclerosis.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Simone Hjaeresen, Tobias Sejbaek, Markus Axelsson, Sif Klovedal Mortensen, Helle Vinslov-Jensen, Gorm Pihl-Jensen, Lenka Novakova, Christian Bonde Pedersen, Bo Halle, Frantz Rom Poulsen, Mengliang Zhang, Eirikur Benedikz, Jette Lautrup Frederiksen, Jan Lycke, Zsolt Illes, Asa Fex-Svenningsen
Summary: The levels of macrophage migration inhibitory factor (MIF) in the cerebrospinal fluid (CSF) of patients with different subtypes of multiple sclerosis (MS) were investigated. MIF levels were found to be affected by gender and disease type. MIF levels were decreased in clinically isolated syndrome (CIS) and relapsing-remitting MS (RRMS) patients, but elevated in secondary progressive MS (SPMS) patients. The expression of MIF in the human brain was localized to neurons, astrocytes, pericytes, and oligodendrocytes.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Review
Clinical Neurology
Axel Petzold, Clare L. Fraser, Mathias Abegg, Raed Alroughani, Daniah Alshowaeir, Regina Alvarenga, Cecile Andris, Nasrin Asgari, Yael Barnett, Roberto Battistella, Raed Behbehani, Thomas Berger, Mukharram M. Bikbov, Damien Biotti, Valerie Biousse, Antonella Boschi, Milan Brazdil, Andrei Brezhnev, Peter A. Calabresi, Monique Cordonnier, Fiona Costello, Franz M. Cruz, Leonardo Provetti Cunha, Smail Daoudi, Romain Deschamps, Jerome de Seze, Ricarda Diem, Masoud Etemadifar, Jose Flores-Rivera, Pedro Fonseca, Jette Frederiksen, Elliot Frohman, Teresa Frohman, Caroline Froment Tilikete, Kazuo Fujihara, Alberto Galvez, Riadh Gouider, Fernando Gracia, Nikolaos Grigoriadis, Jose M. Guajardo, Mario Habek, Marko Hawlina, Elena H. Martinez-Lapiscina, Juzar Hooker, Jyh Yung Hor, William Howlett, Yumin Huang-Link, Zhannat Idrissova, Zsolt Illes, Jasna Jancic, Panitha Jindahra, Dimitrios Karussis, Emilia Kerty, Ho Jin Kim, Wolf Lagreze, Letizia Leocani, Netta Levin, Petra Liskova, Yaou Liu, Youssoufa Maiga, Romain Marignier, Chris McGuigan, Dalia Meira, Harold Merle, Mario L. R. Monteiro, Anand Moodley, Frederico Moura, Silvia Munoz, Sharik Mustafa, Ichiro Nakashima, Susana Noval, Carlos Oehninger, Olufunmilola Ogun, Afekhide Omoti, Lekha Pandit, Friedemann Paul, Gema Rebolleda, Stephen Reddel, Konrad Rejdak, Robert Rejdak, Alfonso J. Rodriguez-Morales, Marie-Benedicte Rougier, Maria Jose Sa, Bernardo Sanchez-Dalmau, Deanna Saylor, Ismail Shatriah, Aksel Siva, Hadas Stiebel-Kalish, Gabriella Szatmary, Linh Ta, Silvia Tenembaum, Huy Tran, Yevgen Trufanov, Vincent van Pesch, An-Guor Wang, Mike P. Wattjes, Ernest Willoughby, Magd Zakaria, Jasmin Zvornicanin, Laura Balcer, Gordon T. Plant
Summary: There is no consensus on the classification and diagnostic criteria of optic neuritis. The development of diagnostic criteria and classification methods can lead to accurate diagnosis, guide treatment, and assess the need for long-term pharmacological management.
Article
Public, Environmental & Occupational Health
Aida Hougaard Andersen, Zsolt Illes, Kirsten Kaya Roessler
Summary: This study investigates patients' experiences of existential communication with their physicians in the treatment of multiple sclerosis or chronic pain. Patients found it challenging when physicians focused only on medical aspects and neglected psychological and existential aspects of their illness. Patients needed a transition from dependency to autonomy for shared decision-making, and existential communication about transitional objects supported this transition.
JOURNAL OF RELIGION & HEALTH
(2023)
Review
Clinical Neurology
Christoph Mueller, Saskia Elben, Gregory S. Day, Pedro Alves, Julien Hebert, David F. Tang-Wai, Olga Holtmann, Raffaele Iorio, Daniela Perani, Maarten J. Titulaer, Niels Hansen, Thorsten Bartsch, Andreas Johnen, Zslot Illes, Leah Borm, Alice G. Willison, Heinz Wiendl, Sven G. Meuth, Stjepana Kovac, Jens Boelte, Nico Melzer
Summary: This study aims to investigate whether autoimmune limbic encephalitis (ALE) with different associated autoantibodies (AABs) exhibit distinct neuropsychological manifestations and respond differently to immunotherapy. The results show that ALE patients with AABs against LGI1, CASPR2, and GAD65 commonly have memory deficits, along with deficits in attention, executive functions, and psychological function. However, there is currently no definite evidence supporting the notion that different AAB-types of ALE have distinct neuropsychological manifestations and respond differently to immunotherapy.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Immunology
Maria L. Elkjaer, Lukas Simon, Tobias Frisch, Lisa-Marie Bente, Tim Kacprowski, Mads Thomassen, Richard Reynolds, Jan Baumbach, Richard Roettger, Zsolt Illes
Summary: Infectious agents have been implicated in the development of neurological diseases due to their interaction with genetic susceptibility and the environment. The role of bacteria in central nervous system autoimmunity has been highlighted by changes in the gut microbiota of patients with diseases such as Parkinson's, Alzheimer's, and multiple sclerosis, emphasizing the importance of the gut-brain axis. This article discusses the hypothesis of a brain microbiota, known as BrainBiota, which refers to bacteria living in symbiosis with brain cells. Evidence suggests the presence of various bacteria in the human brain, including morphological evidence, bacterial proteins, metabolites, transcripts, and mucosal-associated invariant T cells. The authors propose that these bacteria are integral to brain development, immune tolerance, and are directly linked to the gut microbiome. They also suggest that changes in the BrainBiota during brain diseases may be either a consequence or a cause of chronic inflammation, similar to the gut microbiota.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Agnes Patzko, Gabriella Deli, Tamas Cseh, Zsuzsanna Beleznay, Lajos Nagy, Sandor Keki, Andrea Mike, Endre Pal, Samuel Komoly, Zsolt Illes, Alexandra Csongor, Zoltan Pfund
Summary: This study found elevated levels of dimethylamine in the serum of patients with multifocal motor neuropathy, which were responsive to IVIG therapy, indicating the presence of oxidative stress in MMN.
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
(2022)