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)
Review
Clinical Neurology
Stephane Mathis, Fanny Duval, Antoine Soulages, Guilhem Sole, Gwendal Le Masson
Summary: Ataxia is a frequent symptom in neurological cases with various causes. Sensory ataxia is often observed in conditions affecting the central and peripheral nervous systems. Main causes of ataxic neuropathies can be identified by examining the location of lesions and the timing of their occurrence in peripheral neuropathy cases.
JOURNAL OF NEUROLOGY
(2021)
Review
Clinical Neurology
Caroline Kramarz, Elaine Murphy, Mary M. Reilly, Alexander M. Rossor
Summary: Nutritional peripheral neuropathies are a global issue influenced by geopolitical, cultural, and socioeconomic factors. B-vitamin deficiencies, particularly in vitamins B-1, B-2, B-6, B-9, and B-12, are the most common cause of peripheral neuropathy. This review discusses the historical and current understanding of these deficiencies, as well as diagnostic tools and genetic diseases related to B-vitamin metabolism. Endemic outbreaks of peripheral neuropathy in the past centuries further emphasize the importance of identifying and preventing nutritional deficiencies to reduce disability.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Review
Clinical Neurology
Alexander M. Rossor, Hadi Manji
Summary: Immunotherapy is proving to be effective in treating various types of cancer and inflammatory conditions. The recreational use of nitrous oxide is becoming a global epidemic. Linezolid is now recommended for drug-resistant tuberculosis, and neuropathy is a significant cause of morbidity. Global warming is predicted to increase toxin exposure, leading to previously unaffected areas being affected.
CURRENT OPINION IN NEUROLOGY
(2023)
Article
Clinical Neurology
Caroline Kramarz, Alexander M. Rossor
Summary: This update reviews the recent discovery of autosomal recessive variants in sorbitol dehydrogenase and therapeutic advances in hereditary neuropathy, which provide new insights and methods for the treatment of diseases such as hereditary motor neuropathy and CMT2.
JOURNAL OF NEUROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Berta Sanz-Morello, Hamid Ahmadi, Rupali Vohra, Sarkis Saruhanian, Kristine Karla Freude, Steffen Hamann, Miriam Kolko
Summary: Evidence suggests that changes in the redox system may contribute to various optic neuropathies, characterized by neurodegeneration of innermost retinal neurons and their axons. Optic neuropathies are often asymptomatic until advanced stages, necessitating further investigation of oxidative stress biomarkers and optimization of study design for more valuable and comparable results. Developing therapeutic strategies targeting the redox system is essential to prevent vision loss in optic neuropathies.
Review
Biochemistry & Molecular Biology
Tariq Malik, Ahmed Malik, Alaa Abd-Elsayed
Summary: Work-related injuries are common and costly, especially when nerve damage is involved. Preventing work-related nerve dysfunction is challenging due to its multifactorial nature. Currently, there are no evidence-based guidelines for clinicians to evaluate work-related nerve dysfunction, making effective management difficult. Further research is needed to better understand the pathophysiology of chronic nerve injury and identify new targets for pharmacological interventions.
Article
Clinical Neurology
Satish V. Khadilkar, Sarika B. Patil, Vanaja P. Shetty
Summary: Neuropathies are a significant aspect of leprosy symptomatology, with different forms and impacts. Diagnosis relies on a variety of techniques, while treatment requires collaboration across multiple specialties. The focus in the future should be on prevention to achieve favorable outcomes.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Review
Clinical Neurology
Divpreet Kaur, Harmanpreet Tiwana, Amro Stino, Paola Sandroni
Summary: Autonomic neuropathies are complex disorders that can be classified as acute or chronic. Acute manifestations may be immune-mediated, while chronic forms often result from conditions like diabetes. Treatment should involve a combination of immunotherapy and symptomatic therapy.
Review
Biochemistry & Molecular Biology
Milena Sleczkowska, Kaalindi Misra, Silvia Santoro, Monique M. Gerrits, Janneke G. J. Hoeijmakers, PainNet Study Grp
Summary: This study discusses the potential role of various peripheral ion channels involved in sensory signaling, neuronal excitation regulation, involuntary action potential generation, thermal pain, pH modulation, and neurotransmitter release related to painful neuropathy, as well as their prospective role as therapeutic targets.
Article
Clinical Neurology
Kamakshi Patel, Holli Horak, Ezgi Tiryaki
Summary: Diabetic neuropathies are the most common type of neuropathies seen in clinical practice, ranging from asymptomatic to symptoms caused by motor, sensory, and autonomic nerve dysfunction. These neuropathies can affect the peripheral nervous system, pain receptors, cardiovascular, urogenital, and gastrointestinal systems.
Review
Clinical Neurology
Marina Frasquet, Teresa Sevilla
Summary: Despite the widespread use of new-generation sequencing (NGS) and the identification of new genes, only one third of dHMN patients receive a molecular diagnosis. International collaboration between researchers has led to the discovery of new genes, such as SORD and VWA1, which are implicated in dHMN cases.Mutation in SORD is the most common cause of autosomal recessive forms of dHMN.
CURRENT OPINION IN NEUROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Jung Lo, Kamakshi Mehta, Armaan Dhillon, Yu-Kai Huang, Ziming Luo, Mi-Hyun Nam, Issam Al Diri, Kun-Che Chang
Summary: Glaucoma is a neurodegenerative eye disease characterized by RGC loss and optic nerve degeneration. Treatment options are currently limited to lowering intraocular pressure, but gene therapy and stem cell-based therapies show promise for optic nerve regeneration.
MOLECULAR ASPECTS OF MEDICINE
(2023)
Article
Multidisciplinary Sciences
Mahdi Gholipour, Mohammad Taheri, Jafar Mehvari Habibabadi, Naghme Nazer, Arezou Sayad, Soudeh Ghafouri-Fard
Summary: The study revealed that lncRNAs such as HULC, PVT1, DSCAM-AS1, SPRY4-IT1, LINC-ROR, and MEG3 showed differential expression levels in CIDP and GBS patients compared to healthy controls, indicating their potential involvement in the development of CIDP and GBS.
SCIENTIFIC REPORTS
(2021)
Review
Pharmacology & Pharmacy
Giulia Amore, Martina Romagnoli, Michele Carbonelli, Piero Barboni, Valerio Carelli, Chiara La Morgia
Summary: Efforts to effectively treat hereditary optic neuropathies have made progress with the launch of idebenone for LHON, but further options are needed for conditions like DOA. Developing medications, including gene therapy, are showing promise, paving the way for future therapeutic options in this field.
Article
Clinical Neurology
Stephen Keddie, David Foldes, Francisca Caimari, Stephanie E. Baldeweg, Joshua Bomsztyk, Oliver J. Ziff, Janev Fehmi, Aviva Cerner, Zane Jaunmuktane, Sebastian Brandner, Kwee Yong, Hadi Manji, Aisling Carr, Simon Rinaldi, Mary M. Reilly, Shirley D'Sa, Michael P. Lunn
Article
Clinical Neurology
Simon Rinaldi, Alexander Davies, Janev Fehmi, Heidi N. Beadnall, Justine Wang, Todd A. Hardy, Michael H. Barnett, Simon A. Broadley, Patrick Waters, Stephen W. Reddel, Sarosh R. Irani, Fabienne Brilot, Russell C. Dale, Sudarshini Ramanathan
Summary: Antibodies to myelin oligodendrocyte glycoprotein (MOG) are associated with CNS demyelination including optic neuritis and transverse myelitis. The study of an Australasian MOGAD cohort revealed a subgroup possibly mediated by coexistent autoantibodies, presenting with myeloradiculitis, combined central and peripheral demyelination syndromes, and inflammatory neuropathies, being responsive to immunotherapy.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2021)
Article
Clinical Neurology
Luuk Wieske, Lorena Martin-Aguilar, Janev Fehmi, Cinta Lleixa, Marleen J. A. Koel-Simmelink, Madhurima Chatterjee, Zoe van Lierop, Joep Killestein, Camiel Verhamme, Luis Querol, Simon Rinaldi, Charlotte E. Teunissen, Filip Eftimov
Summary: The study found that serum contactin-1 levels were lower in CIDP patients with paranodal antibodies compared to those without, suggesting it may serve as a possible diagnostic biomarker for paranodal injury in CIDP. This provides class II evidence that serum contactin-1 levels can discriminate between CIDP patients with or without paranodal antibodies with 71% sensitivity and 97% specificity.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2021)
Article
Clinical Neurology
Alex Y. Doets, Christa Walgaard, Hester F. Lingsma, Badrul Islam, Nowshin Papri, Yuko Yamagishi, Susumu Kusunoki, Mazen M. Dimachkie, Waqar Waheed, Noah Kolb, Kenneth C. Gorson, Bart C. Jacobs
Summary: This study validated the Erasmus Guillain-Barre Syndrome Respiratory Insufficiency Score in an international cohort and developed a more accurate region-specific model for patients from Europe/North America.
ANNALS OF NEUROLOGY
(2022)
Article
Clinical Neurology
Alex Y. Doets, Hester F. Lingsma, Christa Walgaard, Badrul Islam, Nowshin Papri, Amy Davidson, Yuko Yamagishi, Susumu Kusunoki, Mazen M. Dimachkie, Waqar Waheed, Noah Kolb, Zhahirul Islam, Quazi Deen Mohammad, Thomas Harbo, Soren H. Sindrup, Govindsinh Chavada, Hugh J. Willison, Carlos Casasnovas, Kathleen Bateman, James A. L. Miller, Bianca van den Berg, Christine Verboon, Joyce Roodbol, Sonja E. Leonhard, Luana Benedetti, Satoshi Kuwabara, Peter Van den Bergh, Soledad Monges, Girolama A. Marfia, Nortina Shahrizaila, Giuliana Galassi, Yann Pereon, Jan Burmann, Krista Kuitwaard, Ruud P. Kleyweg, Cintia Marchesoni, Maria J. Sedano Tous, Luis Querol, Isabel Illa, Yuzhong Wang, Eduardo Nobile-Orazio, Simon Rinaldi, Angelo Schenone, Julio Pardo, Frederique H. Vermeij, Helmar C. Lehmann, Volkan Granit, Guido Cavaletti, Gerardo Gutierrez-Gutierrez, Fabio A. Barroso, Leo H. Visser, Hans D. Katzberg, Efthimios Dardiotis, Shahram Attarian, Anneke J. van der Kooi, Filip Eftimov, Paul W. Wirtz, Johnny P. A. Samijn, H. Jacobus Gilhuis, Robert D. M. Hadden, James K. L. Holt, Kazim A. Sheikh, Summer Karafiath, Michal Vytopil, Giovanni Antonini, Thomas E. Feasby, Catharina G. Faber, Cees J. Gijsbers, Mark Busby, Rhys C. Roberts, Nicholas J. Silvestri, Raffaella Fazio, Gert W. van Dijk, Marcel P. J. Garssen, Chiara S. M. Straathof, Kenneth C. Gorson, Bart C. Jacobs
Summary: The study validated the modified Erasmus GBS Outcome Score (mEGOS) for predicting walking ability in Guillain-Barre syndrome (GBS) patients internationally, and developed a region-specific version for patients in Europe and North America. The results showed that severe limb weakness and older age were the main predictors of poor outcomes.
Article
Clinical Neurology
Sonja E. Leonhard, Annemiek A. van der Eijk, Henning Andersen, Giovanni Antonini, Samuel Arends, Shahram Attarian, Fabio A. Barroso, Kathleen J. Bateman, Manou R. Batstra, Luana Benedetti, Bianca van den Berg, Peter Van den Bergh, Jan Burmann, Mark Busby, Carlos Casasnovas, David R. Cornblath, Amy Davidson, Alex Y. Doets, Pieter A. van Doorn, Charlotte Dornonville de la Cour, Thomas E. Feasby, Janev Fehmi, Tania Garcia-Sobrino, Jonathan M. Goldstein, Kenneth C. Gorson, Volkan Granit, Robert D. M. Hadden, Thomas Harbo, Hans-Peter Hartung, Imran Hasan, Jakob Holbech, James K. L. Holt, Israt Jahan, Zhahirul Islam, Summer Karafiath, Hans D. Katzberg, Ruud P. Kleyweg, Noah Kolb, Krista Kuitwaard, Motoi Kuwahara, Susumu Kusunoki, Linda W. G. Luijten, Satoshi Kuwabara, Edward Lee Pan, Helmar C. Lehmann, Marijke Maas, Lorena Martin-Aguilar, James Al Miller, Quazi Deen Mohammad, Soledad Monges, Velina Nedkova-Hristova, Eduardo Nobile-Orazio, Julio Pardo, Yann Pereon, Luis Querol, Ricardo Reisin, Wouter Van Rijs, Simon Rinaldi, Rhys C. Roberts, Joyce Roodbol, Nortina Shahrizaila, Soren Hein Sindrup, Beth Stein, Tan Cheng-Yin, Hatice Tankisi, Anne P. Tio-Gillen, Maria J. Sedano Tous, Christine Verboon, Frederique H. Vermeij, Leo H. Visser, Ruth Huizinga, Hugh J. Willison, Bart C. Jacobs
Summary: This study analyzed the role of infections in Guillain-Barre syndrome (GBS) and their association with clinical features and disease severity. The distribution of infections varied across geographical regions, but the association between infection and clinical phenotype differed. Coinfections were common, highlighting the importance of broad serologic testing. Infections were also found to have prognostic value for GBS outcome.
Article
Clinical Neurology
Janev Fehmi, Roberto Bellanti, Siraj A. Misbah, Anupam Bhattacharjee, Simon Rinaldi
Summary: Chronic inflammatory demyelinating polyneuropathy is a treatable disease that is often misdiagnosed. Different medications can be used for first and second-line treatments, with consideration of neuropathic pain and non-pharmacological interventions. This article discusses the evidence and practicalities of various treatment approaches, as well as strategies for monitoring treatment response and assessing ongoing therapy needs.
PRACTICAL NEUROLOGY
(2023)
Article
Clinical Neurology
Stephen Keddie, Duncan Smyth, Ryan Y. S. Keh, Michael K. L. Chou, Donna Grant, Sunaina Surana, Amanda Heslegrave, Henrik Zetterberg, Luuk Wieske, Milou Michael, Filip Eftimov, Roberto Bellanti, Simon Rinaldi, Melanie S. Hart, Axel Petzold, Michael P. Lunn
Summary: Valid blood biomarkers specific to peripheral nerve damage would greatly improve management of peripheral nervous system diseases. This study found that peripherin, an intermediate filament protein, could serve as a promising biomarker for peripheral nerve axonal damage. An immunoassay using single molecule array technology was developed to detect serum peripherin levels, and longitudinal analysis showed its potential clinical application in certain diseases.
Review
Clinical Neurology
Roberto Bellanti, Stephen Keddie, Michael P. Lunn, Simon Rinaldi
Summary: The field of biomarker discovery is rapidly expanding, especially in the area of serum and cerebrospinal fluid biomarkers of peripheral neuropathy. Some biomarkers are already being used in clinical practice, while others are still under evaluation. With the increasing availability of biomarkers for clinical use, it has become challenging for clinicians and researchers to stay up-to-date with the latest developments.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
K. Moodley, V. B. Patel, A. A. Moodley, P. L. A. Bill, A. Kajee, V. Mgbachi, J. Fehmi, S. Rinaldi
Summary: The frequency of nodal-paranodal antibodies in patients with chronic immune-mediated radiculo-neuropathies (IMRN) does not differ between HIV-infected and non-infected individuals.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Anesthesiology
Hyoung Woo Kim, Sang Wook Shim, Anna Mae Zhao, Dahee Roh, Hye Min Han, Steven J. Middleton, Wheedong Kim, Sena Chung, Errin Johnson, John Prentice, Mike Tacon, Marleen J. A. Koel-Simmelink, Luuk Wieske, Charlotte E. Teunissen, Yong Chul Bae, David L. H. Bennett, Simon Rinaldi, Alexander J. Davies, Seog Bae Oh
Summary: This study investigates the neuropathology and sensory symptoms of a focal nerve crush injury. The results show that partial crush injury leads to the early return of pinprick sensitivity and persistent thermal and tactile hypersensitivity, which is not observed after a complete crush injury. Furthermore, the neuropathic pain caused by partial crush injury has distinct pathophysiology from that caused by complete nerve injury.
Article
Medicine, Research & Experimental
Rhona McGonigal, Clare Campbell, Jennifer A. Barrie, Denggao Yao, Madeleine E. Cunningham, Colin L. Crawford, Simon Rinaldi, Edward G. Rowan, Hugh J. Willison
Summary: In Guillain-Barre syndrome (GBS), both axonal and demyelinating variants can be mediated by complement-fixing anti-GM1 ganglioside autoantibodies that target peripheral nerve axonal and Schwann cell (SC) membranes, respectively. This study investigated the mechanisms underlying direct axonal injury and secondary axonal degeneration following glial injury in GBS using genetically modified mice targeting different neuronal and glial membranes. The findings provide insights into primary and secondary axonal injury and contribute to the understanding of GBS pathogenesis.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
Meeting Abstract
Clinical Neurology
Linda Luijten, Sonja Leonhard, Alex Doets, Annemiek van der Eijk, Luise Appeltshauser, Samuel Arends, Shahram Attarian, Luana Benedetti, Chiara Briani, Carlos Casasnovas, Francesca Castellani, Efthimios Dardiotis, Andoni Echaniz-Laguna, Thomas Harbo, Andrea Humm, Marcel Garssen, Ruth Huizinga, Korne Jellema, Anneke van der Kooi, Krista Kuitwaard, Thierry Kuntzer, Susumu Kusunoki, Agustina Lascano, Eugenia Martinez-Hernandez, Simon Rinaldi, Johnny Samijn, Olivier Scheidegger, Pinelopi Tsouni, Alex Vicino, Leo Visser, Christa Walgaard, Yuzhong Wang, Paul Wirtz, Paolo Ripellino, Bart Jacobs
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2021)
Article
Clinical Neurology
Elba Pascual-Goni, Janev Fehmi, Cinta Lleixa, Lorena Martin-Aguilar, Jerome Devaux, Romana Hoftberger, Emilien Delmont, Kathrin Doppler, Claudia Sommer, Aleksandar Radunovic, Alejandra Carvajal, Shane Smyth, Laura Williams, Radim Mazanec, Veronika Potockova, Nigel Hinds, Julien Cassereau, Karine Viala, Mathilde Lefilliatre, Guillaume Nicolas, Peter Foley, Frank Leypoldt, Stephen Keddie, Michael P. Lunn, Fritz Zimprich, Vharoon Sharma Nunkoo, Wolfgang N. Loscher, Laura Martinez-Martinez, Jordi Diaz-Manera, Ricard Rojas-Garcia, Isabel Illa, Simon Rinaldi, Luis Querol
Summary: In patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a small percentage have antibodies targeting the Caspr1/CNTN1 complex, showing similar clinical and serological features, forming a distinct subgroup within the CIDP syndrome.
Article
Medicine, General & Internal
Helen Grote, Nicholas Keyi Sim, Simon Rinaldi, Christopher Carswell
Summary: GBS is an acute monophasic polyradiculoneuropathy usually caused by preceding infections, characterized by progressive weakness in the upper and lower limbs and loss of deep tendon reflexes. Diagnosis is based on clinical history, examination findings, cerebrospinal fluid, and electrophysiology. Trauma and surgery are rare triggers for GBS, clinicians should be alert to avoid missing the opportunity for immunomodulatory therapies.