Article
Immunology
Mihaly Balogh, Jixiang Zhang, Caitlyn M. Gaffney, Neha Kalakuntla, Nicholas T. Nguyen, Ronnie T. Trinh, Clarissa Aguilar, Hoang Vu Pham, Bojana Milutinovic, James M. Nichols, Rajasekaran Mahalingam, Andrew J. Shepherd
Summary: This study demonstrates that colon cancer is associated with latent sensory neuron dysfunction and implicates cytokine/chemokine signaling in this process. These findings may have implications for determining risk factors and treatment responsiveness related to neuropathy in colorectal cancer.
JOURNAL OF NEUROINFLAMMATION
(2022)
Article
Anesthesiology
Lubin Chen, Nivanthika K. Wimalasena, Jaehoon Shim, Chongyang Han, Seong-Il Lee, Rafael Gonzalez-Cano, Mark Estacion, Catharina G. Faber, Giuseppe Lauria, Sulayman D. Dib-Hajj, Clifford J. Woolf, Stephen G. Waxman
Summary: Research suggests that gain-of-function variants in the sodium channel Na(v)1.7 are present in 5% to 10% of patients with idiopathic painful small-fiber neuropathy (SFN). However, mouse models carrying the Na(v)1.7 gain-of-function variant did not exhibit pain or neuropathy phenotypes, despite showing hyperexcitability in dorsal root ganglion (DRG) neurons. This highlights the complexities in understanding the relationship between sensory neuron hyperexcitability and pain in channelopathy disorders.
Article
Neurosciences
Mohammad -Reza Ghovanloo, Philip R. Effraim, Jun -Hui Yuan, Betsy R. Schulman, Deborah S. Jacobs, Sulayman D. Dib-Hajj, Stephen G. Waxman
Summary: Despite extensive study, the mechanisms behind pain after axonal injury are still not fully understood. A small group of patients experience pain after corneal refractive surgery, which provides a human pain model for injury to axons. A mutation in the Nav1.7 gene, which encodes a sodium channel expressed in nociceptors, was found in two siblings with persistent ocular pain after refractive surgery.
JOURNAL OF NEUROPHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Milena Sleczkowska, Rowida Almomani, Margherita Marchi, Erika Salvi, Bianca T. A. de Greef, Maurice Sopacua, Janneke G. J. Hoeijmakers, Patrick Lindsey, Stephen G. Waxman, Giuseppe Lauria, Catharina G. Faber, Hubert J. M. Smeets, Monique M. Gerrits
Summary: This study assessed the role of fifteen ion channel genes in neuropathic pain. Variants in ion channel genes were identified in SFN patients, with TRP genes being the most frequent. Patients with these variants reported more severe pain. This study provides promising gene candidates for future research on neuropathic pain etiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Anesthesiology
Franziska Karl, Thorsten Bischler, Nadine Egenolf, Dimitar Evdokimov, Tobias Heckel, Nurcan Ueceyler
Summary: Damage to small nerve fibers can lead to small fiber pathology, which is increasingly associated with pain syndromes like SFN and FMS. RNA sequencing of keratinocytes from patients revealed differences in gene expression between SFN patients and healthy controls, as well as between SFN and FMS patients. Inflammatory pathways were found to be enriched in SFN patients compared to FMS patients.
Review
Clinical Neurology
Simon Haroutounian, Marko S. Todorovic, Mathias Leinders, Marta Campagnolo, Jennifer S. Gewandter, Robert H. Dworkin, Roy Freeman
Summary: Idiopathic small fiber neuropathy lacks widely accepted diagnostic criteria, with substantial heterogeneity existing in the criteria used. This review emphasizes the need for standardized, evidence-based guidelines for diagnosing iSFN.
Review
Clinical Neurology
Janneke G. J. Hoeijmakers, Ingemar S. J. Merkies, Catharina G. Faber
Summary: This review discusses the latest developments in expanding etiologies of small fiber neuropathy (SFN). Recent studies have shown increased attention to immunological causes of SFN, with new auto-antibodies being identified. Identifying patients with immune-mediated SFN can be challenging, and the clinical presentation may vary depending on the underlying condition.
CURRENT OPINION IN NEUROLOGY
(2022)
Review
Clinical Neurology
Kevin Kyle, Spencer K. Hutto, Haatem Reda, Reza Zonozi, Khosro Farhad, Anushya Jeyabalan, Bart K. Chwalisz
Summary: This is a case series discussing a possible novel association between ANCA and SFN, a common peripheral neurologic disorder. The study shows that ANCA may be associated with immune-mediated SFN. Six patients were included, and two of them had systemic vasculitis. After treatment, some patients experienced partial improvement in symptoms.
NEUROLOGICAL SCIENCES
(2023)
Letter
Clinical Neurology
Steven Galetta, Aravind Ganesh, Ariane Lewis, James E. Siegler
Summary: This article compared the effectiveness of IVIG and placebo in patients with idiopathic small fiber neuropathy and found no significant difference in pain intensity rating. In a discussion, concerns were raised about the use of IVIG in patients with autoimmune SFN. The authors responded with additional data and suggested the need for further research on the role of IVIG in autoimmune SFN.
Article
Materials Science, Multidisciplinary
Santiago Velasco-Bosom, Johannes Gurke, Sanggil Han, Michael C. Lee, George G. Malliaras
Summary: In this study, flexible and adhesive interdigitated electrodes were developed with a PEDOT:PSS coating, which improved the safety and selectivity of electrical stimulation. The effectiveness of the device was demonstrated through experiments, showing its potential as a diagnostic and monitoring tool for SFN.
ADVANCED MATERIALS TECHNOLOGIES
(2023)
Article
Clinical Neurology
Gary R. Zirpoli, Khosro Farhad, Madeleine C. Klein, Sean Downs, Max M. Klein, Anne Louise Oaklander
Summary: The diagnosis of small-fiber neuropathy (SFN) is challenging due to its subjective symptoms and lack of confirmatory testing. The Massachusetts General Hospital Neuropathy Exam Tool (MAGNET) was developed as a predictive examination to assist in the diagnosis of SFN.
Article
Clinical Neurology
Tabea Seeliger, Henrike Neelke Dreyer, Janna Margaretha Siemer, Lena Boenig, Stefan Gingele, Maike Franziska Dohrn, Nils Prenzler, Diana Ernst, Torsten Witte, Thomas Skripuletz
Summary: Sjogren's syndrome is a potentially treatable cause of Small Fiber Neuropathy (SFN). This study found no significant differences in symptoms and cerebrospinal fluid parameters between SFN patients with and without Sjogren's syndrome. However, SFN patients with Sjogren's syndrome had lower intraepidermal nerve fiber densities, suggesting a different pathomechanism.
JOURNAL OF NEUROLOGY
(2023)
Review
Rheumatology
Florian Bailly
Summary: Fibromyalgia and small fibre neuropathy are two diseases that cause chronic widespread pain, with distinct differences in pathophysiology and clinical presentation. Analyzing symptoms, associated diseases, and using specific testing methods can help differentiate between these two conditions.
Article
Biochemistry & Molecular Biology
Lai-San Wong, Chih-Hung Lee, Yu-Ta Yen
Summary: SFN has been suggested to be involved in the pathogenesis of autoimmune connective tissue diseases, such as DM and CLE. The study found that SFN might contribute to cutaneous neuropathic symptoms in DM, while IL-18 and IL-31 mediated epidermal NGF expression could be important in DM. The results also showed decreased intraepidermal nerve fiber density in CLE patients compared to healthy controls.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Katharina von Cossel, Nicole Muschol, Reinhard E. Friedrich, Markus Glatzel, Luise Ammer, Benjamin Lohmoeller, Martin Bendszus, Victor-Felix Mautner, Tim Godel
Summary: The study showed that most female patients carrying the non-classical variant p.D313Y had decreased intraepidermal nerve fiber density and experienced neuropathic pain, indicating a history of small fiber neuropathy in the majority of cases.
Article
Clinical Neurology
Mirna Andelic, Erika Salvi, Stefania Marcuzzo, Margherita Marchi, Raffaella Lombardi, Daniele Cartelli, Daniele Cazzato, Elkadia Mehmeti, Andrea Gelemanovic, Matilde Paolini, Carlotta Pardo, Ilaria D'Amato, Janneke G. J. Hoeijmakers, Sulayman Dib-Hajj, Stephen G. Waxman, Catharina G. Faber, Giuseppe Lauria
Summary: Personalized management of neuropathic pain is a clinical need that has not been fulfilled due to various factors. Recent studies on microRNA have provided insights into pain-related mechanisms and identified potential drug candidates. By generating a molecular profile of the epidermis in patients with sodium channel-related painful neuropathy, the researchers identified specific miRNAs and mRNA targets that are involved in peripheral sensory transduction and modulation. The findings suggest a complex interaction between epidermal cells and axons in neuropathy pain. This targeted molecular profiling could advance personalized medicine for neuropathic pain.
Article
Immunology
Maria Rescigno, Chiara Agrati, Carlo Salvarani, Diana Giannarelli, Massimo Costantini, Alberto Mantovani, Raffaella Massafra, Pier Luigi Zinzani, Aldo Morrone, Stefania Notari, Giulia Matusali, Giuseppe Lauria Pinter, Antonio Uccelli, Gennaro Ciliberto, Fausto Baldanti, Franco Locatelli, Nicola Silvestris, Valentina Sinno, Elena Turola, Maria Teresa Lupo-Stanghellini, Giovanni Apolone
Summary: This study compared the B-cell, T-cell, and neutralizing antibody response to WT and Omicron BA.2 SARS-CoV-2 virus in patients with hematological malignancies, solid tumors, and immune-rheumatological diseases after the fourth dose of mRNA COVID-19 vaccine. The T-cell response was similarly boosted by the fourth dose across different subgroups, while the antibody response was improved only in patients not receiving B-cell targeted therapies. However, a small percentage of patients did not have neutralizing antibodies to either virus variants, making them vulnerable to SARS-CoV-2 infection. The increment of neutralizing antibodies was similar towards Omicron BA.2 and WT virus after the third or fourth dose of vaccine. Additional booster doses are recommended for frail patients to enhance the development of a B-cell response against Omicron and/or to enhance the T-cell response in patients treated with anti-CD20.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Anna Nigri, Eleonora Dalla Bella, Stefania Ferraro, Jean Paul Medina Carrion, Greta Demichelis, Enrica Bersano, Monica Consonni, Antje Bischof, Mario Stanziano, Sara Palermo, Giuseppe Lauria, Maria Grazia Bruzzone, Nico Papinutto
Summary: This study evaluated the degeneration of gray matter and white matter in the cervical spinal cord in amyotrophic lateral sclerosis patients using the King's staging system. The results showed that the pattern of spinal cord atrophy differed in different clinical stages. This study provides important insights into the progression of amyotrophic lateral sclerosis.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Summary: Neurological disorders, such as movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. In this study, researchers extracted CNVs from clinical exome sequencing reports of 4800 probands and found that CNVs had approximately a 7% success rate in diagnosing neurological disorders. Therefore, CNV analysis is recommended for movement disorders, muscle diseases, neuropathies, or any other single-system disorder.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Eleonora Giagnorio, Claudia Malacarne, Paola Cavalcante, Letizia Scandiffio, Marco Cattaneo, Viviana Pensato, Cinzia Gellera, Nilo Riva, Angelo Quattrini, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Silvia Bonanno, Stefania Marcuzzo
Summary: Amyotrophic lateral sclerosis (ALS) is characterized by the loss of upper and lower motor neurons (UMNs, LMNs) and miR-146a dysregulation may contribute to the pathogenesis of ALS. In this study, miR-146a levels were increased in ALS peripheral nerves and decreased in the serum of ALS patients, suggesting its potential as a diagnostic and prognostic biomarker for the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Rowida Almomani, Maurice Sopacua, Margherita Marchi, Milena Sleczkowska, Patrick Lindsey, Bianca T. A. de Greef, Janneke G. J. Hoeijmakers, Erika Salvi, Ingemar S. J. Merkies, Maryam A. Ferdousi, Rayaz Malik, Dan Ziegler, Kasper W. J. Derks, Gidon Boenhof, Filippo Martinelli-Boneschi, Daniele Cazzato, Raffaella Lombardi, Sulayman G. Dib-Hajj, Stephen Waxman, Hubert J. M. M. Smeets, Monique G. Gerrits, Catharina Faber, Giuseppe Lauria
Summary: Rare SCG genetic variants may contribute to the development of painful neuropathy. Genetic profiling and SCG variant identification can provide better understanding of the genetic variability in patients with painful and painless neuropathy, leading to improved risk stratification and personalized pain treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Anesthesiology
Margherita Marchi, Erika Salvi, Mirna Andelic, Elkadia Mehmeti, Ilaria D'Amato, Daniele Cazzato, Federica Chiappori, Raffaella Lombardi, Daniele Cartelli, Grazia Devigili, Eleonora Dalla Bella, Monique Gerrits, Rowida Almomani, Rayaz A. Malik, Milena Sleczkowska, Anna Mazzeo, Luca Gentile, Sulayman Dib-Hajj, Stephen G. Waxman, Catharina G. Faber, Eleonora Vecchio, Marina de Tommaso, Giuseppe Lauria
Summary: This study aimed to identify rare variants associated with chronic neuropathic pain and nociplastic pain by conducting next-generation sequencing and gene-wise aggregation analysis. TRPA1 was found to be the most significant gene, with the frequency of rare variants significantly differentiating chronic pain patients from healthy controls. The study expands the understanding of channelopathy-related chronic pain disorders and contributes to personalized therapies based on patients' molecular profiles.
Article
Medicine, General & Internal
Catharina G. Faber, Nadine Attal, Giuseppe Lauria, Robert H. Dworkin, Roy Freeman, Katherine T. Dawson, Helen Finnigan, Amirhossein Hajihosseini, Himanshu Naik, Michael Serenko, Christopher J. Morris, Mona Kotecha
Summary: This clinical trial evaluated the efficacy and safety of vixotrigine in patients with painful small fibre neuropathy (SFN). The study found that vixotrigine can effectively reduce pain symptoms in SFN patients and is well tolerated.
Article
Medicine, Research & Experimental
Mirna Andelic, Margherita Marchi, Stefania Marcuzzo, Raffaella Lombardi, Catharina G. Faber, Giuseppe Lauria, Erika Salvi
Summary: Archived specimens are valuable resources in translational medicine and can be used for retrospective molecular studies and disease prediction. Microfluidic arrays are cost-effective methods for profiling miRNAs, but post-analytical pipelines should be standardized and appropriate settings and references should be considered.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2023)
Meeting Abstract
Clinical Neurology
Mirna Andelic, Erika Salvi, Margherita Marchi, Daniele Cazzato, Stefania Marcuzzo, Daniele Cartelli, Janneke Hoeijmakers, Catharina Faber, Raffaella Lombardi, Giuseppe Lauria Pinter
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)