Article
Clinical Neurology
Jeroen W. Bos, Ewout J. N. Groen, Kevin Budding, Eveline M. Delemarre, H. Stephan Goedee, Edward F. Knol, Leonard H. van den Berg, W. Ludo van der Pol
Summary: This study aimed to further understand the risk factors and disease modifiers of MMN by studying the innate immune responses to endotoxin in patients with MMN and controls. The results showed no significant differences in immune responses to endotoxin between the two groups, suggesting that altered endotoxin-induced innate immune responses are unlikely to be a susceptibility factor for MMN.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Medicine, General & Internal
Krithika Suresh, Preethi Mereddy, Nicholas Lanciano, Md Didar Ul Alam
Summary: Multifocal motor neuropathy (MMN) is a peripheral nerve disorder characterized by progressive weakness, mainly in the distal limbs, with minimal or no sensory impairment. This condition is associated with the presence of antibodies, primarily IgM, against gangliosides, particularly GM1 ganglioside. We present a case of MMN in a patient who developed symptoms of paresthesia and limb weakness shortly after receiving the influenza vaccine and was found to have high levels of anti-GM1 IgM antibodies. Initial treatment with IVIG was unsuccessful, but plasma exchange was effective in achieving remission.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Clinical Neurology
You-Fan Peng, Miao Luo, Qing-Song Zhang
Summary: The study found that the monocyte to high-density lipoprotein cholesterol ratio (MHR) is associated with the subtype and clinical severity of Guillain-Barre Syndrome (GBS) patients.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Marianna Di Egidio, Cristian R. R. Bacaglio, Rocio Arrejoria, Andres M. Villa, Gustavo A. A. Nores, Pablo H. H. Lopez
Summary: Multifocal motor neuropathy (MMN) is a peripheral nerve disorder characterized by progressive muscle weakness. IgM anti-GM1 antibodies play a direct role in the disease process. We found an immunoregulatory mechanism mediated by IgG antibodies in MMN patients, leading to a lack of natural reactivity against GM1.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Biochemistry & Molecular Biology
Elena Genovese, Margherita Mirabile, Sebastiano Rontauroli, Stefano Sartini, Sebastian Fantini, Lara Tavernari, Monica Maccaferri, Paola Guglielmelli, Elisa Bianchi, Sandra Parenti, Chiara Carretta, Selene Mallia, Sara Castellano, Corrado Colasante, Manjola Balliu, Niccolo Bartalucci, Raffaele Palmieri, Tiziana Ottone, Barbara Mora, Leonardo Potenza, Francesco Passamonti, Maria Teresa Voso, Mario Luppi, Alessandro Maria Vannucchi, Enrico Tagliafico, Rossella Manfredini
Summary: Myelofibrosis is a type of myeloproliferative neoplasm with poor prognosis and no response to traditional therapies. Driver mutations in JAK2 and CALR impact ROS production and oxidative DNA damage, with CALR-mutated patients showing higher ROS levels and lower antioxidant activity compared to JAK2-mutated patients. High plasma levels of total antioxidant capacity are associated with adverse clinical features and poor overall survival, particularly in patients with JAK2 mutations, suggesting a different response to oxidative stress as a potential mechanism underlying myelofibrosis progression.
Article
Clinical Neurology
Ali Al-Zuhairy, Soren H. Sindrup, Johannes Jakobsen
Summary: The study showed that long-term subcutaneous immunoglobulin therapy is feasible, effective and well-received by patients with multifocal motor neuropathy, as it resulted in maintained isometric strength, unaltered ODSS scores, and non-inferior secondary variables compared to baseline values.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Susanna B. Park, Tiffany Li, Matthew C. Kiernan, Nidhi Garg, Ian Wilson, Richard White, Michael Boggild, Andrew McNabb, Matthew Lee-Archer, Bruce Taylor
Summary: This study investigated the prevalence of CIDP and MMN in Australia and found that the prevalence of CIDP was approximately 5.00 per 100,000 people and the prevalence of MMN was approximately 1.33 per 100,000 people. These findings are important for future resource planning and treatment monitoring.
Article
Geriatrics & Gerontology
Jeroen W. Bos, Henny G. Otten, Ingrid J. T. Herraets, H. Stephan Goedee, E. A. Cats, Talitha de Hoop, Willem Verduijn, W. Ludo van der Pol, Leonard H. van den Berg
Summary: The study found that MMN patients were more likely to have the DRB1*15:01-DQB1*06:02 and DRB1*12:01-DQB1*03:01 haplotypes, but these haplotypes were not associated with disease course, treatment response, or anti-ganglioside antibodies.
NEUROBIOLOGY OF AGING
(2021)
Article
Clinical Neurology
Louisa Mueller-Miny, Raoul Sauer, Andreas Schulte-Mecklenbeck, Catharina C. Gross, Stjepana Kovac, Matthias Schilling, Carolin Beuker, Heinz Wiendl, Gerd Meyer Zu Hoerste
Summary: This report describes a case of a patient who developed a MMN-like clinical manifestation associated with autoantibodies against CASPR2. Immunotherapy with intravenous immunoglobulins improved the symptoms.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Article
Clinical Neurology
Diederik J. L. Stikvoort Garcia, Maria O. Kovalchuk, H. Stephan Goedee, Leonard J. van Schelven, Leonard H. van den Berg, Hessel Franssen, Boudewijn T. H. M. Sleutjes
Summary: In this study, it was found that CMAP(max) and MUNE were reduced in patients with multifocal motor neuropathy (MMN), while the largest MU amplitude was increased. Presence of anti-GM1 antibodies was associated with an increased relative range of MU thresholds and a reduction in largest MU amplitude. The findings suggest that CMAP scans could complement routine nerve conduction studies and potentially be used for monitoring treatment efficacy and disease progression.
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)
Article
Clinical Neurology
Stefano Pro, Fabiana Ursitti, Gian Luca Pruneddu, Matteo Di Capua, Massimiliano Valeriani
Summary: This case report discusses the 3-year follow-up of a 13-year-old girl with MMN, who showed no improvement after treatment with IVIg. While childhood onset MMN is rare, most patients in literature respond to IVIg treatment.
Article
Medicine, General & Internal
Sven H. Loosen, Vincent van den Bosch, Joao Gorgulho, Maximilian Schulze-Hagen, Jennis Kandler, Markus S. Joerdens, Frank Tacke, Christina Loberg, Gerald Antoch, Tim Bruemmendorf, Ulf P. Neumann, Christiane Kuhl, Tom Luedde, Christoph Roderburg
Summary: Skeletal muscle composition changes serve as an important marker for therapy response and overall survival in patients receiving ICI therapy for solid malignancies. Longitudinal changes in muscle quality and muscle mass index are relevant in the context of ICI therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Clinical Neurology
Nilo Riva, Francesco Gentile, Federica Cerri, Francesca Gallia, Paola Podini, Giorgia Dina, Yuri Matteo Falzone, Raffaella Fazio, Christian Lunetta, Andrea Calvo, Giancarlo Logroscino, Giuseppe Lauria, Massimo Corbo, Sandro Iannaccone, Adriano Chio, Alberto Lazzerini, Eduardo Nobile-Orazio, Massimo Filippi, Angelo Quattrini
Summary: This study aimed to define the TDP-43/pTDP-43 pathology and evaluate its potential as a tissue biomarker for amyotrophic lateral sclerosis (ALS) and non-ALS cases, by using diagnostic motor nerve biopsies from patients with lower motor neuron syndrome. The researchers found that pTDP-43 aggregates were present in the peripheral nervous system of ALS patients, even in cases with normal features at standard histopathological analysis, suggesting that pTDP-43 aggregation is an early event that may contribute to ALS pathogenesis.
Article
Neurosciences
Ramya Srinivasa Rangan, Milind S. Tullu, Chandrahas T. Deshmukh, Shruti A. Mondkar, Mukesh Agrawal
Summary: This retrospective study analyzed the clinical profile and outcome of 30 cases of Pediatric Guillain Barre Syndrome, finding that symmetrical lower limb weakness was the most common complaint, with gastrointestinal illness being the common antecedent illness. Treatment with intravenous immunoglobulin showed significant improvement in symptoms, and the presence of autonomic disturbances predicted higher mortality in patients.
Article
Rehabilitation
Karlien Mul, Feri Wijayanto, Tom G. J. Loonen, Perry Groot, Sanne C. C. Vincenten, Simone Knuijt, Jan T. Groothuis, Thomas J. J. Maal, Tom Heskes, Nicol C. Voermans, Baziel G. M. van Engelen
Summary: This study developed a functional assessment measure for evaluating the functional disabilities associated with facial weakness in facioscapulohumeral muscular dystrophy (FSHD). The measure demonstrated good reliability and validity, and can be used as a tool for further research.
DISABILITY AND REHABILITATION
(2023)
Article
Rehabilitation
W. A. Van de Geest-Buit, N. B. Rasing, K. Mul, J. C. W. Deenen, S. C. C. Vincenten, I Siemann, A. Lanser, J. T. Groothuis, B. G. van Engelen, J. A. E. Custers, N. C. Voermans
Summary: This study aimed to evaluate the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). The findings showed that patients reported mild to moderate psychological distress, fear of negative evaluation, and social functioning. However, severe self-reported facial weakness was associated with lower social functioning. Patients with more facial dysfunction experienced higher fear of negative evaluation and lower social functioning. Younger age, presence of pain, fatigue, walking difficulty, and psychological support were also factors contributing to lower psychosocial outcomes. Overall, this study suggests that a multidisciplinary, personalized approach is needed to address the physical, emotional, and social consequences of FSHD.
DISABILITY AND REHABILITATION
(2023)
Article
Cardiac & Cardiovascular Systems
Isis B. T. Joosten, Cheyenne E. W. Janssen, Corinne G. C. Horlings, Dennis den Uijl, Reinder Evertz, Baziel G. M. van Engelen, Catharina G. Faber, Kevin Vernooy
Summary: The study aims to evaluate the clinical effectiveness of routine 24-hour Holter monitoring in screening for conduction disturbances and arrhythmias in patients with myotonic dystrophy type 1 (DM1). The results show that Holter monitoring can detect conduction disorders in the majority of DM1 patients, and a significant proportion of patients experience new arrhythmias during Holter monitoring. Therefore, incorporating 24-hour Holter monitoring into routine cardiac screening is of added value for DM1 patients.
Article
Clinical Neurology
Kevin R. Keene, Johan M. de Nie, Mechteld J. Brink, Irene C. Notting, Jan J. G. M. Verschuuren, Hermien E. Kan, Jan-Willem M. Beenakker, Martijn R. Tannemaat
Summary: This study aimed to explore whether orthoptic measures, including an adapted Hess chart examination, can aid in diagnosing ocular myasthenia gravis (MG). The results showed that orthoptic measurements can be used to diagnose MG by quantifying extraocular muscle (EOM) weakness and fatiguability. Drift during persistent gaze on a Hess chart was found to be specific for MG, and could be used for diagnostic purposes.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Review
Clinical Neurology
Karlijn Bouman, Anne T. M. Dittrich, Jan T. Groothuis, Baziel G. M. van Engelen, Mirian C. H. Janssen, Nicol C. Voermans, Jos M. T. Draaisma, Corrie E. Erasmus
Summary: This scoping review summarizes the evidence on bone quality in congenital myopathies and provides recommendations for bone quality management, including bone mineral density assessment, vitamin D and calcium supplementation, and referral to internal medicine or pediatrics for consideration of additional therapies to prevent complications of low bone mineral density.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Clinical Neurology
Renske M. J. Janssen, Renee Lustenhouwer, Edith H. C. Cup, Nens van Alfen, Jos Ijspeert, Rick C. Helmich, Ian G. M. Cameron, Alexander C. H. Geurts, Baziel G. M. van Engelen, Maud J. L. Graff, Jan T. Groothuis
Summary: This study compared the effects of multidisciplinary rehabilitation with usual care on the functional capability of the shoulder, arm, and hand in patients with neuralgic amyotrophy. The results showed that multidisciplinary rehabilitation was more effective in improving shoulder functional capability and reducing pain and fatigue.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Nienke M. van de Velde, Zaida Koeks, Mirko Signorelli, Nisha Verwey, Maurice Overzier, Jaap A. Bakker, Gautam Sajeev, James Signorovitch, Valeria Ricotti, Jan Verschuuren, Kristy Brown, Pietro Spitali, Erik H. Niks
Summary: This study investigated changes in 3 muscle-enriched biomarkers in the serum of Becker muscular dystrophy (BMD) patients and examined their associations with disease severity, progression, and dystrophin levels. The results showed that Cr/Crn and myostatin were closely related to patients' motor performance and may serve as monitoring biomarkers for BMD.
Review
Clinical Neurology
Jildou N. Dijkstra, Eline Boon, Nick Kruijt, Esther Brusse, Sithara Ramdas, Heinz Jungbluth, Baziel G. M. van Engelen, Jon Walters, Nicol C. Voermans
Summary: Muscle cramps are painful, involuntary contractions that are typically a normal part of human physiology. They can be caused by various acquired or inherited factors, but rarely by progressive systemic or neuromuscular diseases. General practitioners and neurologists often encounter patients with muscle cramps and less frequently those with contractures. Clinicians need to determine whether it is a muscle cramp, contracture, or mimic, as well as the cause and appropriate diagnostic and treatment strategies.
PRACTICAL NEUROLOGY
(2023)
Article
Geriatrics & Gerontology
Donnie Cameron, Tooba Abbassi-Daloii, Laura G. M. Heezen, Nienke M. van de Velde, Zaida Koeks, Thom T. J. Veeger, Melissa T. Hooijmans, Salma el Abdellaoui, Sjoerd G. van Duinen, Jan J. G. M. Verschuuren, Maaike van Putten, Annemieke Aartsma-Rus, Vered Raz, Pietro Spitali, Erik H. Niks, Hermien E. Kan
Summary: This study used DT-MRI to compare muscle fiber diameter between BMD patients and healthy controls and found that BMD patients had significantly larger muscle fiber diameter. The results of DT-MRI were consistent with histology, suggesting that it can be used as an imaging biomarker for muscular dystrophies without the need for invasive biopsies.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Geriatrics & Gerontology
Sanne C. C. Vincenten, Karlien Mul, Daniel van As, Julia J. Jansen, Linda Heskamp, Arend Heerschap, Baziel G. M. van Engelen, Nicol C. Voermans
Summary: This study found significant changes in both MRI imaging and clinical outcome measures in a large longitudinal prospective cohort of FSHD patients. There was a significant correlation between changes in MRI-CoS and changes in clinical outcome measures. The study also identified subgroups of patients that are most prone to radiological disease progression. These findings further establish quantitative MRI parameters as prognostic biomarkers in FSHD and as efficacy biomarkers in upcoming clinical trials.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Cell Biology
Clothilde Claus, Moriya Slavin, Eugenie Ansseau, Celine Lancelot, Karimatou Bah, Saskia Lassche, Manon Fievet, Anna Greco, Sara Tomaiuolo, Alexandra Tassin, Virginie Dudome, Benno Kusters, Anne-Emilie Decleves, Dalila Laoudj-Chenivesse, Baziel G. M. van Engelen, Denis Nonclercq, Alexandra Belayew, Nir Kalisman, Frederique Coppee
Summary: The presence and interaction between DUX4c and DUX4 proteins in FSHD muscle cells suggest their involvement in muscle regeneration and pathology. The interaction of DUX4c with specific protein partners and markers indicates its physiological role in muscle repair. Therapeutic strategies targeting DUX4 should consider the potential interference with DUX4c functions.
Article
Clinical Neurology
Kevin R. Keene, Irene C. Notting, Jan J. G. M. Verschuuren, N. Voermans, Ronald. O. B. de Keizer, Jan-Willem M. Beenakker, Martijn R. Tannemaat, Hermien E. Kan
Summary: Quantitative MRI was used to study the extra-ocular muscles (EOM) in patients with myasthenia gravis (MG). The study found that chronic MG patients showed small increases in EOM volume and muscle fat fraction (FF), while patients with chronic progressive external ophthalmoplegia (CPEO) showed decreased volume and patients with Graves' ophthalmopathy (GO) showed increased volume. The severity of ophthalmoplegia in MG was not correlated with EOM volume, but was correlated in CPEO and oculopharyngeal muscular dystrophy (OPMD).
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Clinical Neurology
G. W. Padberg, B. G. M. van Engelen, N. C. Voermans
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a human neuromuscular disease caused by the loss of epigenetic repression of the D4Z4 repeat on chromosome 4q35, resulting in inappropriate transcription of DUX4. This is due to a reduction of the repeat size or a mutation in methylating enzymes, requiring specific genetic alleles. The progression of the disease is variable, and it can manifest as mild or non-penetrant in affected individuals. FSHD is hypothesized to be a myodevelopmental disease with a lifelong attempt to restore DUX4 repression.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Clinical Neurology
Ronne Pater, Joana Garmendia, Benjamin Gallais, Christopher Graham, Nicoline Voet
Summary: This workshop aimed to develop recommendations for psychological interventions to support people living with slowly progressive neuromuscular disorders (NMD). The group recommends that psychological interventions should be embedded in the routine clinical care offered to people living with NMD based on evidence from randomised controlled trials, carefully conducted observational studies, and the coherence of these data with the experience of those living with NMD. The workshop included clinicians, researchers, people living with NMD and their relatives, who discussed key psychological challenges presented by NMD and ways to adapt therapies for cognitive impairments or neurodevelopmental differences that occur in some NMD.
NEUROMUSCULAR DISORDERS
(2023)
Article
Clinical Neurology
Renee Lustenhouwer, Ian G. M. Cameron, Nens van Alfen, Ivan Toni, Alexander C. H. Geurts, Baziel G. M. van Engelen, Jan T. Groothuis, Rick C. Helmich
Summary: This study aimed to determine whether abnormal cerebral sensorimotor representations associated with peripheral nerve damage in neuralgic amyotrophy (NA) can be changed by specialized multidisciplinary outpatient rehabilitation. The results showed that the multidisciplinary rehabilitation group demonstrated significant clinical improvement on the Shoulder Rating Questionnaire, while both groups showed improvement in task performance and increased activity in visuomotor occipito-parietal brain areas specific to the affected upper extremity. This study suggests that abnormal cerebral sensorimotor representations can recover towards normality after peripheral nerve damage.
NEUROREHABILITATION AND NEURAL REPAIR
(2023)