Article
Clinical Neurology
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault, Valerie Risson, Julien Carras, Laurent Coudert, Thomas Simonet, Philippe Latour, Tanya Stojkovic, Juliette Piard, Anne Cosson, Gaetan Lesca, Francoise Bouhour, Stephane Allouche, Helene Puccio, Antoine Pegat, Laurent Schaeffer
Summary: Jacquier et al. identified a homozygous variant in the COQ7 gene in a family with distal hereditary motor neuropathy. This variant leads to a decrease in coenzyme Q10 production, causing impaired mitochondrial metabolism. Coenzyme Q10 supplementation may serve as a potential treatment for this disorder.
Review
Biochemistry & Molecular Biology
Abhishek Shastri, Ahmad Al Aiyan, Uday Kishore, Maria Elena Farrugia
Summary: Dysfunction of the immune system can lead to peripheral nervous system damage. The immune mechanisms involve inflammation and proliferation of Schwann cells and result in demyelination and axonal degeneration. Animal models have contributed to understanding the pathophysiology of inflammatory polyradiculoneuropathies. Detection of specific antibodies aids in diagnosis. Paraneoplastic neuropathies are immune-mediated reactions to tumor cells. This review discusses the immunological and pathophysiological mechanisms, as well as the electrophysiological characteristics, laboratory features, and treatment options of dysimmune neuropathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Clinical Neurology
Janev Fehmi, Alexander J. Davies, Jon Walters, Timothy Lavin, Ryan Keh, Alexander M. Rossor, Tudor Munteanu, Norman Delanty, Rhys Roberts, Dirk Baumer, Graham Lennox, Simon Rinaldi
Summary: This study identified eight patients with IgG(1) subclass antibodies directed against neurofascin, defining a severe autoimmune neuropathy with rapid progression of tetraplegia, cranial nerve deficits, autonomic dysfunction, and respiratory involvement. Standard immunotherapy was ineffective for these patients, but B cell-depleting therapy with rituximab showed promising results in improving function and achieving seronegativity. Further trials of targeted immunotherapy are recommended for this specific group of patients.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Review
Clinical Neurology
Michael P. Collins, Robert D. M. Hadden, Nazima Shahnoor
Summary: The perineurium is a component of the blood-nerve barrier and surrounds each fascicle in peripheral nerves. Perineuritis, both nonspecific and primary, is characterized by inflammation of the perineurium and can mimic nonsystemic vasculitic neuropathy. Primary perineuritis (PP) is an immune-mediated, corticosteroid-responsive disorder with T-cell-predominant inflammation and axonal changes.
Review
Anesthesiology
Joel Fundaun, Melissa Kolski, Georgios Baskozos, Andrew Dilley, Michele Sterling, Annina B. Schmid
Summary: This systematic review assessed the evidence for nerve pathology and neuropathic pain in patients with whiplash-associated disorder (WAD). The findings strongly suggest a subset of WAD patients demonstrate signs of peripheral nerve pathology and neuropathic pain. The study recommends including detailed clinical assessments for nerve integrity in WAD classifications.
Article
Clinical Neurology
Stefan Nicolau, Margherita Milone, Jennifer A. Tracy, John R. Mills, James D. Triplett, Teerin Liewluck
Summary: IMNM patients can present with atypical clinical and histological features, leading to delays in diagnosis and treatment. Despite these atypical findings, clinicians should consider IMNM as a possible cause of unexplained proximal myopathies. Immunomodulatory therapy has shown to be effective in all patients.
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
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
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
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)
Review
Rheumatology
Shirish Dubey, Nilay Joshi, Olivia Stevenson, Caroline Gordon, John A. Reynolds
Summary: This review focuses on chilblains secondary to immune-mediated inflammatory disorders, primarily discussing the epidemiology, pathogenesis, and treatment of CHLE.
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Review
Immunology
Beatriz Garcillan, Miguel Salavert, Jose R. Regueiro, Sabela Diaz-Castroverde
Summary: Patients with immune-mediated inflammatory diseases (IMIDs) receiving biologic therapies may experience attenuated vaccine responses. Certain therapies impair the immunogenicity and antibody responses to vaccines, while others do not affect immune responses. SARS-CoV-2 vaccination appears to be safe and well tolerated in IMID patients, but the efficacy may be reduced compared to healthy individuals.