Article
Genetics & Heredity
Yanina Timasheva, Timur R. Nasibullin, Ilsiyar A. Tuktarova, Vera V. Erdman, Timur R. Galiullin, Oksana Zaplakhova, Klara Z. Bakhtiiarova
Summary: In this study, genetic predictors of MS were identified in three ethnically homogenous populations from the Volga-Ural region of Russia. Five variants were found to be associated with MS, with different allelic patterns observed in men and women. The results confirm associations previously reported in European populations.
Article
Clinical Neurology
Maria Cellerino, Giacomo Boffa, Caterina Lapucci, Francesco Tazza, Elvira Sbragia, Elisabetta Mancuso, Nicolo Bruschi, Simona Minguzzi, Federico Ivaldi, Ilaria Poire, Alice Laroni, Gianluigi Mancardi, Elisabetta Capello, Antonio Uccelli, Giovanni Novi, Matilde Inglese
Summary: The study found that ocrelizumab is an effective and safe treatment for patients with RRMS and PMS, with better outcomes observed in treatment-naive patients and those with lower baseline disability levels. Depletion of CD8 + cells may be a key factor in the early therapeutic effects of ocrelizumab.
Article
Clinical Neurology
Ermelinda De Meo, Raffaello Bonacchi, Lucia Moiola, Bruno Colombo, Francesca Sangalli, Chiara Zanetta, Maria Pia Amato, Vittorio Martinelli, Maria Assunta Rocca, Massimo Filippi
Summary: This study assessed early predictors of 9-year disability in pediatric patients with multiple sclerosis. Factors such as optic nerve lesions and high-efficacy treatment exposure were found to predict time to first relapse. Changes in disease progression at different time points also influenced long-term disability outcomes.
ANNALS OF NEUROLOGY
(2021)
Article
Health Care Sciences & Services
Elisabet Lopez-Soley, Eloy Martinez-Heras, Magi Andorra, Aleix Solanes, Joaquim Radua, Carmen Montejo, Salut Alba-Arbalat, Nuria Sola-Valls, Irene Pulido-Valdeolivas, Maria Sepulveda, Lucia Romero-Pinel, Elvira Munteis, Jose E. Martinez-Rodriguez, Yolanda Blanco, Elena H. Martinez-Lapiscina, Pablo Villoslada, Albert Saiz, Elisabeth Solana, Sara Llufriu
Summary: This study found that cognition in MS deteriorates 5 years after disease onset, declining steadily over the next 25 years and more markedly affecting verbal memory. Baseline measures such as education, disease severity, lesion burden, and volume of limbic structures are predictive of future CI and may help identify at-risk patients.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Neurosciences
Maria Isabel Carrasco-Campos, Cristina Perez-Ramirez, Elena Macias-Cortes, Elena Puerta-Garcia, Antonio Sanchez-Pozo, Carmen Arnal-Garcia, Francisco Javier Barrero-Hernandez, Miguel Angel Calleja-Hernandez, Alberto Jimenez-Morales, Marisa Canadas-Garre
Summary: This study found that gene polymorphisms in TNFRSF10A-rs20576 and CTSS-rs1136774 have an impact on the response to IFN-beta after 24 months of treatment, while the variations in CBLB (rs12487066), OAS1 (rs10774671) or GRIA3 (rs12557782) genes do not affect individual response to IFN-beta.
MOLECULAR NEUROBIOLOGY
(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
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)
Article
Clinical Neurology
Vilija G. Jokubaitis, Maria Pia Campagna, Omar Ibrahim, Jim Stankovich, Pavlina Kleinova, Fuencisla Matesanz, Daniel Hui, Sara Eichau, Mark Slee, Jeannette Lechner-Scott, Rodney Lea, Trevor J. Kilpatrick, Tomas Kalincik, Philip L. De Jager, Ashley Beecham, Jacob L. McCauley, Bruce Taylor, Steve Vucic, Louise Laverick, Karolina Vodehnalova, Maria-Isabel Garcia-Sanchez, Antonio Alcina, Anneke van der Walt, Eva Kubala Havrdova, Guillermo Izquierdo, Nikolaos Patsopoulos, Dana Horakova, Helmut Butzkueven
Summary: Multiple sclerosis is a leading cause of adult neurological disability, and the clinical heterogeneity of the disease has made it difficult to identify genetic variants associated with outcomes. Researchers used a large international multiple sclerosis registry and machine learning to find genetic loci associated with disease severity. They found that multiple genetic loci of small effect sizes contribute to clinical outcomes.
Article
Medicine, General & Internal
Ruijie Zeng, Rui Jiang, Wentao Huang, Jiaxuan Wang, Lijun Zhang, Yuying Ma, Yanjun Wu, Meijun Meng, Hekui Lan, Qizhou Lian, Felix W. Leung, Weihong Sha, Hao Chen
Summary: The study reveals a genetic correlation and shared risk genes between obesity and multiple sclerosis (MS). These findings provide insights into the potential mechanisms behind their comorbidity and future therapeutic developments.
Article
Medicine, General & Internal
Gintare Rumsaite, Greta Gedvilaite, Renata Balnyte, Loresa Kriauciuniene, Rasa Liutkeviciene
Summary: This study suggests that cellular senescence caused by telomere shortening may be associated with the development of multiple sclerosis (MS). By analyzing gene polymorphisms, it was found that certain alleles of the TERC gene are associated with a lower risk of developing MS, while certain alleles of the TEP1 gene are associated with an increased risk.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Sifat Sharmin, Charles B. Malpas, Izanne Roos, Ibrahima Diouf, Raed Alroughani, Serkan Ozakbas, Guillermo Izquierdo, Sara Eichau, Dana Horakova, Eva K. Havrdova, Francesco Patti, Murat Terzi, Cavit Boz, Bassem Yamout, Samia J. Khoury, Marco Onofrj, Alessandra Lugaresi, Ayse Altintas, Alexandre Prat, Marc Girard, Pierre Duquette, Maria Jose Sa, Daniele La Spitaleri, Youssef Sidhom, Riadh Gouider, Saloua Mrabet, Aysun Soysal, Recai Turkoglu, Maria Pia Amato, Yara D. Fragoso, Tomas Kalincik
Summary: Older age at symptom onset, higher disability, and pyramidal, visual, or cerebellar symptoms during the first year are associated with worse disability outcomes in pediatric-onset MS patients. Persistent use of higher-efficacy DMTs is associated with a reduced rate of disability worsening.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Biochemistry & Molecular Biology
Maria S. Hadjiagapiou, George Krashias, Elie Deeba, George Kallis, Andri Papaloizou, Paul Costeas, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Summary: The study revealed that MS patients had an overrepresentation of polymorphisms associated with coagulation, which were linked to the severity and progression of the disease.
Article
Clinical Neurology
Tommaso Guerra, Antonella Pipoli, Rosa Gemma Viterbo, Nicola Manghisi, Damiano Paolicelli, Pietro Iaffaldano, Luigi Di Lorenzo
Summary: This study evaluated factors associated with unemployment in patients with relapsing-remitting multiple sclerosis (RRMS). The results showed that female gender, more severe disease disability, and lower education level were associated with a higher risk of unemployment. On the other hand, receiving treatment and having a longer education period were protective factors against unemployment.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Nicolas Wenzel, Matthias Wittayer, Claudia E. Weber, Lucas Schirmer, Michael Platten, Achim Gass, Philipp Eisele
Summary: This study identified that acute contrast-enhancing lesions in MS patients with a ring-like contrast-enhancement pattern and a peripheral hypointense rim on ADC maps have a higher likelihood of converting into iron rim lesions. This combination of imaging parameters can be used to predict lesion evolution and could be a target for early therapeutic intervention.
JOURNAL OF NEUROLOGY
(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.
Review
Clinical Neurology
Samir Abu-Rumeileh, Ahmed Abdelhak, Matteo Foschi, Lucio D'Anna, Michele Russo, Petra Steinacker, Jens Kuhle, Hayrettin Tumani, Kaj Blennow, Markus Otto
Summary: Abu-Rumeileh et al. provide an overview of the role of neurofilament light chain protein as a biomarker in various medical fields. Its validation and application have greatly impacted the diagnosis and prognosis of neurological diseases. Recent studies have also explored its potential applications in non-primary neurological conditions.
Review
Emergency Medicine
Jonas A. Strohm, Peter C. Strohm, Jan Kuehle, Hagen Schmal, Jorn Zwingmann
Summary: This study aimed to investigate the various management approaches for juvenile and aneurysmal bone cysts and evaluate their clinical outcomes. Surgical removal and Doxycycline injection showed excellent healing rates and low recurrence rates for aneurysmal bone cysts. Surgical interventions, especially with autologous cancellous bone graft, were superior to non-surgical approaches in managing juvenile bone cysts.
EUROPEAN JOURNAL OF TRAUMA AND EMERGENCY SURGERY
(2023)
Article
Clinical Neurology
Valentin Loser, Pascal Benkert, Alex Vicino, Pansy Lim Dubois Ferriere, Thierry Kuntzer, Jerome Pasquier, Aleksandra Maceski, Jens Kuhle, Marie Theaudin
Summary: Serum neurofilament light chain (sNfL) may serve as an early and reliable biomarker of peripheral neuropathy in hATTR amyloidosis, allowing for assessment of disease severity and treatment response.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Clinical Neurology
Charidimos Tsagkas, Antal Huck-Horvath, Alessandro Cagol, Tanja Haas, Muhamed Barakovic, Michael Amann, Esther Ruberte, Lester Melie-Garcia, Matthias Weigel, Simon Pezold, Regina Schlaeger, Jens Kuhle, Till Sprenger, Ludwig Kappos, Oliver Bieri, Philippe Cattin, Cristina Granziera, Katrin Parmar
Summary: Spinal cord atrophy of the cervical anterior horn is clinically relevant in multiple sclerosis (MS) patients, particularly in progressive MS (PMS) patients and at the level of cervical SC enlargement.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
Jens Kuhle, Tanuja Chitnis, Brenda Banwell, Marc Tardieu, Douglas L. Arnold, Andreea M. Rawlings, Svend S. Geertsen, Alex L. Lublin, Stephane Saubadu, Philippe Truffinet, Ludwig Kappos
Summary: The TERIKIDS study demonstrated that teriflunomide is effective and safe in children with relapsing multiple sclerosis (RMS). Teriflunomide treatment is associated with significantly reduced pNfL levels in children with RMS.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
Tim Spelman, Serkan Ozakbas, Raed Alroughani, Murat Terzi, Suzanne Hodgkinson, Guy Laureys, Tomas Kalincik, Anneke Van der Walt, Bassem Yamout, Jeannette Lechner-Scott, Aysun Soysal, Jens Kuhle, Jose Luis Sanchez-Menoyo, Yolanda Blanco Morgado, Daniele La Spitaleri, Vincent van Pesch, Dana Horakova, Radek Ampapa, Francesco Patti, Richard Macdonell, Abdullah Al-Asmi, Oliver Gerlach, Jiwon Oh, Ayse Altintas, Namita Tundia, Schiffon L. Wong, Helmut Butzkueven
Summary: This study compared treatment patterns and clinical outcomes of multiple sclerosis (MS) patients treated with cladribine tablets versus other oral disease-modifying treatment (DMT) using real-world data. The results demonstrated that cladribine tablets were associated with longer treatment persistence, delayed time to first relapse, and lower relapse rate compared to other oral DMTs.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Surgery
Leonard Simon Brandenburg, Pit Jacob Voss, Thomas Mischkowsky, Jan Kuehle, Michael Andreas Ermer, Julia Vera Weingart, Rene Marcel Rothweiler, Marc Christian Metzger, Rainer Schmelzeisen, Philipp Poxleitner
Summary: This study investigated comorbidity of the hip following deep circumflex iliac artery (DCIA) graft raising using CAD/CAM techniques. The results showed a significant correlation between graft volume and skin incision length with postoperative donor site morbidity. The study suggests that a minimally invasive approach could help reduce postoperative symptomatology in CAD/CAM surgery.
Article
Clinical Neurology
Stephanie Meier, Eline A. J. Willemse, Sabine Schaedelin, Johanna Oechtering, Johannes Lorscheider, Lester Melie-Garcia, Alessandro Cagol, Muhamed Barakovic, Riccardo Galbusera, Suvitha Subramaniam, Christian Barro, Ahmed Abdelhak, Simon Thebault, Lutz Achtnichts, Patrice Lalive, Stefanie Muller, Caroline Pot, Anke Salmen, Giulio Disanto, Chiara Zecca, Marcus D'Souza, Annette Orleth, Michael Khalil, Arabella Buchmann, Renaud Du Pasquier, Ozgur Yaldizli, Tobias Derfuss, Klaus Berger, Marco Hermesdorf, Heinz Wiendl, Fredrik Piehl, Marco Battaglini, Urs Fischer, Ludwig Kappos, Claudio Gobbi, Cristina Granziera, Claire Bridel, David Leppert, Aleksandra Maleska Maceski, Pascal Benkert, Jens Kuhle
Summary: This study found that serum glial fibrillary acidic protein (sGFAP) and serum neurofilament light chain (sNfL) are correlated with features of disease progression in multiple sclerosis (MS) and can predict disease progression. sGFAP may serve as a useful biomarker for disease progression in MS in individual patient management and drug development.
Article
Clinical Neurology
Charidimos Tsagkas, Antal Huck-Horvath, Alessandro Cagol, Tanja Haas, Michael Amann, Muhamed Barakovic, Esther Ruberte, Lester Melie-Garcia, Matthias Weigel, Simon Pezold, Regina Schlaeger, Jens Kuhle, Till Sprenger, Ludwig Kappos, Oliver Bieri, Philippe Cattin, Cristina Granziera, Katrin Parmar
Summary: This study investigated longitudinal changes of cervical spinal cord (cSC) gray and white matter areas in multiple sclerosis (MS) patients. The results showed that patients with clinical progression had a faster reduction of cSC areas over time compared to stable patients. Additionally, compared to patients without clinical progression and healthy controls, only patients with clinical progression demonstrated a preferential reduction of cSC and white matter areas at the level of cSC enlargement.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)
Article
Neurosciences
A. L. Wenger, Muhamed Barakovic, Sara Bosticardo, Sabine Schaedelin, Alessandro Daducci, Simona Schiavi, Matthias Weigel, Reza Rahmanzadeh, Po-Jui Lu, Alessandro Cagol, Ludwig Kappos, Jens Kuhle, Pasquale Calabrese, Cristina Granziera
Summary: The presence of focal cortical and white matter damage in patients with multiple sclerosis (pwMS) might lead to specific alterations in brain networks that are associated with cognitive impairment. We applied microstructure-weighted connectomes to investigate the relationship between global network metrics and information processing speed in pwMS, and whether the disruption provoked by focal lesions on global network metrics is associated to patients' information processing speed.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Clinical Neurology
Giulio Disanto, Michele Villa, Aleksandra Maleska Maceski, Chiara Prosperetti, Claudio Gobbi, Jens Kuhle, Tiziano Cassina, Pamela Agazzi
Summary: Serum neurofilament light (sNfL) is a promising marker for predicting the outcome of cardiac arrest. The study found that sNfL levels were similar between survivors and non-survivors upon admission, but significant differences were observed after 24 hours. sNfL concentrations showed high predictive value for death, especially when early samples were unavailable or prognosis remained uncertain.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Clinical Neurology
Ilaria Callegari, Mika Schneider, Vera Aebischer, Margarete M. M. Voortman, Undine Proschmann, Tjalf Ziemssen, Raija Lindberg, Bettina Fischer-Barnicol, Michael Khalil, Ludwig Kappos, Jens Kuhle, Nicholas S. R. Sanderson, Tobias Derfuss
Summary: This study found that natalizumab can diffuse in different anatomical compartments, including cerebrospinal fluid and milk. By developing a flow-cytometry-based assay and applying it to quantify natalizumab in body fluids, including cerebrospinal fluid, breastmilk, and serum, a better understanding of the safety of therapeutic antibody administration during pregnancy and lactation can be achieved.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Article
Neuroimaging
Xinjie Chen, Sabine Schadelin, Po-Jui Lu, Mario Ocampo-Pineda, Matthias Weigel, Muhamed Barakovic, Esther Ruberte, Alessandro Cagol, Benedicte Marechal, Tobias Kober, Jens Kuhle, Ludwig Kappos, Lester Melie-Garcia, Cristina Granziera
Summary: We developed a method to create personalized qT1 abnormality maps in MS patients and assessed their relationship with disability, demonstrating their potential value in clinical practice.
NEUROIMAGE-CLINICAL
(2023)
Article
Clinical Neurology
Nuria Cerda-Fuertes, Sara Nagy, Sabine Schaedelin, Tim Sinnecker, Esther Ruberte, Athina Papadopoulou, Jens Wurfel, Jens Kuhle, Ozgur Yaldizli, Ludwig Kappos, Tobias Derfuss, Bernhard F. Decard
Summary: This study aimed to describe the frequency, severity, and potential risk factors for recurring disease activity (RDA) in patients with multiple sclerosis (pwMS) after discontinuation of fingolimod (FGL). The results showed that younger age, shorter disease duration, and MRI activity during FGL treatment were independent risk factors for post-FGL RDA. Individual risk assessment and early switch to highly effective therapy can help minimize the risk of post-FGL RDA.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Article
Clinical Neurology
Lutz Achtnichts, Chiara Zecca, Oliver Findling, Christian P. Kamm, Stefanie Mueller, Jens Kuhle, Andreas Lutterotti, Claudio Gobbi, Camille Viviani, Emanuela Villiger-Borter, Krassen Nedeltchev
Summary: In patients with multiple sclerosis (MS), relapses and disability progression are associated with decreased health-related quality of life (HRQoL). A study found that treatment with natalizumab for 1 year resulted in improved or stable EDSS status in most patients, and certain domains of HRQoL seemed to improve.
BMJ NEUROLOGY OPEN
(2023)