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
Biochemistry & Molecular Biology
Ming-Feng Liao, Jung-Lung Hsu, Hon-Chung Fung, Hung-Chou Kuo, Chun-Che Chu, Hong-Shiu Chang, Rong-Kuo Lyu, Long-Sun Ro
Summary: The correlation between small fiber neuropathy, age, sex, and pain intensity in Fabry's disease patients was studied. Male patients showed increased C-fiber function with age and higher pain intensity between their early 20s and late 40s. Female patients had variable associations between these variables. The findings suggest a mechanism involving the gradual deposition of globotriaosylceramide or globotriaosylsphingosine in small nerve bundles that induce continuous damage and neuropathic pain in young males.
BIOMEDICAL JOURNAL
(2022)
Review
Medicine, General & Internal
Mary A. Kelley, Kevin V. Hackshaw
Summary: Small fiber neuropathy is a type of peripheral neuropathy caused by damage to small A-delta and C nerve fibers. Diagnosis usually involves skin biopsies, and while there is no clear phenotype in fibromyalgia to suggest who may have SFN, research shows it may be correlated with severe cases.
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
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)
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)
Article
Clinical Neurology
Jingwen Liu, Yi Li, Jingwen Niu, Lei Zhang, Jing Fan, Yuzhou Guan, Liying Cui, Mingsheng Liu
Summary: The fasciculation grade and distribution pattern detected with MUS can help distinguish ALS patients from those with symptoms resembling ALS. Fasciculation intensity was higher in ALS patients compared to non-ALS patients, and the distribution pattern was also different between the two groups.
Article
Behavioral Sciences
Veronika Potockova, Sarka Mala, Lucie Hoskovcova, Vaclav Capek, Tomas Nedelka, Lucie Riedlbauchova, Daniel Baumgartner, Livie Mensova, Radim Mazanec
Summary: This study aimed to investigate whether thermal quantitative sensory testing (TQST) can be used as a screening tool to identify patients with diabetes at a higher risk of cardiac autonomic neuropathy (CAN). The results showed that TQST can accurately diagnose CAN with high specificity and positive predictive value. Therefore, TQST can be used as a rapid screening method before performing time-consuming cardiovascular autonomic reflex tests (CART).
BRAIN AND BEHAVIOR
(2022)
Article
Neurosciences
A. Joseph Bloom, Xianrong Mao, Amy Strickland, Yo Sasaki, Jeffrey Milbrandt, Aaron DiAntonio
Summary: The study identified rare hypermorphic SARM1 alleles as candidate genetic risk factors for ALS and other neurodegenerative conditions, demonstrating their ability to promote neurodegeneration and suggesting their importance in the development of these diseases.
MOLECULAR NEURODEGENERATION
(2022)
Article
Clinical Neurology
Panagiotis Zis, Faiza Shafique, Ptolemaios G. Sarrigiannis, Artemios Artemiadis, Dasappaiah G. Rao, David S. Sanders, Marios Hadjivassiliou
Summary: The study found that two-thirds of patients with GN have sudomotor dysfunction, and the lack of correlation between pain and sudomotor dysfunction suggests different patterns of small fiber involvement in patients with GN.
NEUROLOGICAL 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.
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)
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.
Article
Clinical Neurology
Marcela Camara Machado-Costa, Miguel Mitne-Neto, Luiza Helena Degani Costa, Luciana Moura Alves, Acary Souza Bulle Oliveira, Mayana Zatz, Helga Cristina Almeida Silva
Summary: This study compared the neurologic evaluation, electrophysiological study, and skin biopsy results of ALS8 and sALS patients. The findings suggest that ALS8 patients have similar sensory involvement and intraepidermal nerve fiber density as sALS patients.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Rheumatology
Antonello Viceconti, Tommaso Geri, Simone De Luca, Filippo Maselli, Giacomo Rossettini, Alberto Sulli, Angelo Schenone, Marco Testa
Summary: Recent studies have shown that approximately 50% of fibromyalgic patients have neuropathy of small- and/or large-fibers, which may explain the puzzling symptoms of fibromyalgia. Despite the high prevalence of symptoms suggestive of small-fiber pathology, a relatively low percentage of patients underwent neurophysiologic investigations and skin punch biopsy.
Article
Neurosciences
Luisa Kress, Nadine Egenolf, Claudia Sommer, Nurcan Uceyler
Summary: This study found higher gene expression of the anti-inflammatory cytokines IL-2, IL-8, and TNF in white blood cells of patients with SFN compared to healthy controls. The combination of these three cytokines had high diagnostic accuracy. Furthermore, female patients showed higher gene expression levels of IL-8 and TNF. IL-2 gene expression was negatively correlated with current pain intensity, and IL-10 gene expression differed between different types of pain.
Article
Clinical Neurology
Luise Appeltshauser, Helena Junghof, Julia Messinger, Janis Linke, Axel Haarmann, Ilya Ayzenberg, Panoraia Baka, Johannes Dorst, Anna L. Fisse, Thomas Grueter, Valerie Hauschildt, Alexander Joerk, Frank Leypoldt, Mathias Maeurer, Edgar Meinl, Sebastian Michels, Jeremias Motte, Kalliopi Pitarokoili, Mark Stettner, Carmen Villmann, Marc Weihrauch, Gabriel S. Welte, Inga Zerr, Katrin G. Heinze, Claudia Sommer, Kathrin Doppler
Summary: Autoimmune neuropathy associated with antibodies against pan-neurofascin is a new subtype of nodo-paranodopathy that is associated with high morbidity and mortality. The underlying pathology and long-term prognosis of this condition are not well understood. Understanding the pathogenic mechanism of this disease may have direct implications for its treatment.
Article
Clinical Neurology
Marie Madlener, Christine Strippel, Franziska S. Thaler, Kathrin Doppler, Klaus P. Wandinger, Jan Lewerenz, Marius Ringelstein, Rosa Roessling, Til Menge, Jonathan Wickel, Christoph Kellingshaus, Sigrid Mues, Andrea Kraft, Andreas Linsa, Simone C. Tauber, Florian Then Berg, Stefan T. Gerner, Asterios Paliantonis, Alexander Finke, Josef Priller, Ingo Schirotzek, Marie Suesse, Kurt W. Suehs, Christian Urbanek, Makbule Senel, Claudia Sommer, Tania Kuempfel, Harald Pruess, Gereon R. Fink, Frank Leypoldt, Nico Melzer, Michael P. Malter
Summary: This study investigated 101 patients with suspected autoimmune neurological syndromes (AINS) associated with glutamic acid decarboxylase (GAD) antibodies. The results showed that immunotherapy had moderate effectiveness in these patients, and serum GAD antibody levels and intrathecal GAD antibody synthesis did not predict clinical characteristics or treatment outcomes.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Endocrinology & Metabolism
Jonas Muentze, Kolja Lau, Markus Cybulla, Eva Brand, Tereza Cairns, Lora Lorenz, Nurcan Ueceyler, Claudia Sommer, Christoph Wanner, Peter Nordbeck
Summary: This study investigated therapy adherence and patient-reported outcomes in Fabry disease patients receiving migalastat treatment. The results showed that almost all patients demonstrated high therapy adherence, and there was improvement in pain and physical limitations during the treatment.
MOLECULAR GENETICS AND METABOLISM
(2023)
Letter
Neurosciences
Juliane Bremer, Johannes Friemann, Saskia von Stillfried, Peter Boor, Joachim Weis
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Patricia Franzka, Svenja Caren Schueler, Takfarinas Kentache, Robert Storm, Andrea Bock, Istvan Katona, Joachim Weis, Katrin Buder, Christoph Kaether, Christian A. Hubner
Summary: Proteins of the secretory pathway undergo glycosylation in the ER and Golgi apparatus. Mutations in GMPPA can cause AAMR syndrome with various symptoms. Loss of GMPPA leads to Golgi fragmentation, altered protein abundance, reduced furin activity, and increased retention of alpha-DG.
Letter
Cardiac & Cardiovascular Systems
Caroline Morbach, Aikaterini Papagianni, Sandra Ihne-Schubert, Vladimir Cejka, Maximilian Steinhardt, Georg Fette, Melissa Held, Andreas Geier, Hermann Einsele, Stefan Frantz, Stefan Knop, Claudia Sommer, Stefan Stoerk
CLINICAL RESEARCH IN CARDIOLOGY
(2023)
Editorial Material
Clinical Neurology
Didier Leys, Claudia Sommer, Paul Boon
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Patricia Garcia-Fernandez, Colette Reinhold, Nurcan Ueceyler, Claudia Sommer
Summary: Polyneuropathy (PNP) refers to diseases of the peripheral nervous system, with 50% of cases presenting with neuropathic pain. Certain types of PNP show pain restricted to the distal leg skin, indicating a local regulatory process leading to pain. This study suggests that a pro-inflammatory pathway mediated by NF-κB may contribute to pain development in patients with painful PNP. Our findings support the hypothesis of local inflammatory processes involved in pain in PNP, and suggest disrupted anti-inflammatory pathways in inflammatory PNP involving TRPV1 and SIRT1.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Nadine Cebulla, Daniel Schirmer, Eva Runau, Leon Flamm, Sonja Gommersbach, Helena Stengel, Xiang Zhou, Hermann Einsele, Ann-Kristin Reinhold, Bruno Rogalla von Bieberstein, Daniel Zeller, Heike Rittner, K. Martin Kortuem, Claudia Sommer
Summary: This study aimed to evaluate the relationship between serum levels of neurofilament light chain (NfL) and the characteristics of BTZ-induced peripheral neuropathy (BIPN). The study found that both patients with ongoing BTZ treatment and patients with previous BTZ treatment had higher serum NfL levels compared to controls, and patients with ongoing BTZ treatment had higher NfL levels than patients with past treatment. Serum NfL levels correlated with electrophysiological measures of axonal damage in the group with ongoing BTZ treatment.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Anastasia Kuzkina, Celine Panzer, Aline Seger, Daniela Schmitt, Jonas Roessle, Sebastian R. Schreglmann, Henrike Knacke, Elena Salabasidou, Antonia Kohl, Elisabeth Sittig, Michael Barbe, Daniela Berg, Jens Volkmann, Claudia Sommer, Wolfgang H. Oertel, Eva Schaeffer, Michael Sommerauer, Annette Janzen, Kathrin Doppler
Summary: The study assessed the use of RT-QuIC method to detect alpha-synuclein aggregation in skin biopsy samples of iRBD patients. It was found that 97.4% of iRBD patients, 87.2% of PD patients, and 13% of controls showed aggregation of alpha-synuclein. RT-QuIC was more sensitive but less specific compared to immunohistochemistry.
MOVEMENT DISORDERS
(2023)
Article
Immunology
Patricia Garcia-Fernandez, Klemens Hoefflin, Antonia Rausch, Katharina Strommer, Astrid Neumann, Nadine Cebulla, Ann-Kristin Reinhold, Heike Rittner, Nurcan Ueceyler, Claudia Sommer
Summary: In patients with peripheral neuropathies (PNP), the presence of neuropathic pain is independent of the etiology and is found in 50% of the cases. The pathophysiology of pain in PNP is poorly understood, but inflammation has been implicated in neurodegeneration, regeneration, and pain. A comprehensive analysis of inflammatory markers in blood and cerebrospinal fluid (CSF) of PNP patients and controls revealed no major differences in systemic inflammation, but specific cytokines or lipids showed variations. The study highlights the importance of CSF analysis in patients with peripheral neuropathies.
FRONTIERS IN IMMUNOLOGY
(2023)
Editorial Material
Clinical Neurology
Claudia Sommer
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Anesthesiology
Claudia Sommer, Margarita Calvo, Fernando Cervero, John D. Loeser
Summary: The International Association for the Study of Pain has made important contributions to the understanding and treatment of pain through various activities and is committed to reducing the burden of pain worldwide.
