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
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)
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.
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
Anesthesiology
Maike F. Dohrn, Christina Dumke, Thorsten Hornemann, Stefan Nikolin, Angelika Lampert, Volker Espenkott, Jan Vollert, Annabelle Ouwenbroek, Martina Zanella, Jorg B. Schulz, Burkhard Gess, Roman Rolke
Summary: Small fiber neuropathies (SFNs) are characterized by dysfunction or degeneration of A delta and C fibers, causing significant health burden. In a study of 100 individuals with idiopathic SFN, neuropathic pain was the most common symptom, and 1-deoxy-sphingolipids in plasma were found to be correlated with sensory loss.
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
Anesthesiology
Chi-Chao Chao, Ming-Tsung Tseng, Yea-Huey Lin, Paul-Chen Hsieh, Chien-Ho (Janice) Lin, Shin-Leh Huang, Sung-Tsang Hsieh, Ming-Chang Chiang
Summary: Patients with SFN showed reduced white matter connectivity with pain-related brain areas, with the degree of skin nerve degeneration correlated with different neuropathic pain phenotypes. Despite altered connectivity, there was no change in white matter integrity as assessed by fractional anisotropy. Our findings suggest that changes in structural connectivity may serve as a biomarker of maladaptive brain plasticity contributing to neuropathic pain following peripheral nerve degeneration.
Article
Clinical Neurology
Lorena M. Bitzi, Dirk Lehnick, Einar P. Wilder-Smith
Summary: The study indicates significant incidence and prevalence rates of SFN in Switzerland, with symptoms and severity varying greatly. The majority of patients exhibit a length dependent clinical pattern, with all patients experiencing sensory discomfort. Over one third of patients have an unknown etiology, while autoimmune SFN and metabolic causes account for a significant portion of cases.
Article
Anesthesiology
Anne Dumolard, Jean-Pascal Lefaucheur, Enkelejda Hodaj, Zaki Liateni, Jean-Francois Payen, Hasan Hodaj
Summary: The prevalence of small-fiber neuropathy (SFN) in fibromyalgia (FM) patients was studied in this retrospective observational cohort study. It was found that approximately 20% of FM patients had reduced electrochemical skin conductance (ESC) values, and central sensitization was identified as one of the main determinants of ESC abnormalities. This study is the first to demonstrate an association between central sensitization, small nerve fiber impairment, and neuropathic pain features in FM patients.
CLINICAL JOURNAL OF PAIN
(2023)
Article
Clinical Neurology
Eleonora Galosi, Pietro Falco, Giuseppe Di Pietro, Caterina Leone, Nicoletta Esposito, Gianfranco De Stefano, Giulia Di Stefano, Andrea Truini
Summary: This study tested the accuracy of the Small Fiber Neuropathy Symptoms Inventory Questionnaire (SFN-SIQ) in diagnosing pure SFN and found that it has good discriminative ability, making it useful for screening patients with suspected SFN and determining the need for further diagnostic tests.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Article
Clinical Neurology
Can Ebru Bekircan-Kurt, Javid Jahanroshan, Asli Tuncer, Zeynep Ergul-Ulger, Gursel Gunes, Sevim Erdem-Ozdamar, Ersin Tan
Summary: This study aimed to investigate the small fiber loss and its length dependency in multiple sclerosis (MS) patients. Skin biopsy samples from MS patients showed lower proximal intraepidermal nerve fiber density (IENFD) compared to healthy controls, but no significant difference in distal IENFD. There was no apparent difference between MS patients with and without neuropathic pain. These findings suggest the presence of non-length dependent small fiber neuropathy in MS patients.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)
Review
Clinical Neurology
Franco Gemignani, Maria F. Bellanova, Elena Saccani, Giovanni Pavesi
Summary: The clinical spectrum of NLD-SFN is varied and often atypical, with treatment primarily based on managing neuropathic pain. Research in the future is expected to clarify the interconnected aspects of phenotypic characterization, diagnostic criteria, and pathophysiology.
Article
Clinical Neurology
Aysun Damci, Koen R. J. Schruers, Carsten Leue, Catharina G. Faber, Janneke G. J. Hoeijmakers
Summary: This study investigated the prevalence and factors associated with anxiety and depressive symptoms in patients with small fiber neuropathy (SFN). The results showed that 36.3% of SFN patients reported anxiety or depressive symptoms, which were significantly associated with pain intensity, catastrophizing, and SFN-related complaints.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Article
Anesthesiology
Johan Roikjer, Suganthiya Santhiapillai Croosu, Jens Brondum Frokjaer, Tine Maria Hansen, Lars Arendt-Nielsen, Niels Ejskjaer, Carsten Dahl Morch
Summary: This study aimed to validate a new method for assessing small sensory nerve function in diabetes and further understand why some people with diabetes develop painful neuropathies. The researchers assessed large and small nerve function using a novel perception threshold tracking technique in different groups of individuals with type 1 diabetes. The study found that the nerve properties were specific in individuals with diabetes and pain, with significant differences between the groups.
Article
Pharmacology & Pharmacy
Celeste Chidiac, Yaping Xue, Maria del Mar Muniz Moreno, Ameer Abu Bakr Rasheed, Romain Lorentz, Marie-Christine Birling, Claire Gaveriaux-Ruff, Yann Herault
Summary: Mutant mice with the Scn10a(G1663S) allele displayed increased sensitivity in behavioral tests of nociception, with males showing shorter latencies to radiant heat and females showing longer latencies in the tail flick test. Additionally, mutant males had a shorter reaction latency on the 54°C hot plate. This study suggests that the G1662 mutation of SCN10A contributes to pain symptoms in SFN patients.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Clinical Neurology
T. H. P. Draak, K. C. Gorson, E. K. Vanhoutte, S. I. van Nes, P. A. van Doorn, D. R. Cornblath, L. H. van den Berg, C. G. Faber, I. S. J. Merkies
EUROPEAN JOURNAL OF NEUROLOGY
(2016)
Article
Multidisciplinary Sciences
Alise Kalteniece, Maryam Ferdousi, Ioannis Petropoulos, Shazli Azmi, Safwaan Adam, Hassan Fadavi, Andrew Marshall, Andrew J. M. Boulton, Nathan Efron, Catharina G. Faber, Giuseppe Lauria, Handrean Soran, Rayaz A. Malik
SCIENTIFIC REPORTS
(2018)
Article
Clinical Neurology
Anna-Karin Persson, Shujun Liu, Catharina G. Faber, Ingemar S. J. Merkies, Joel A. Black, Stephen G. Waxman
ANNALS OF NEUROLOGY
(2013)
Article
Clinical Neurology
Judith M. Lionarons, Danique M. J. Hellebrekers, Sylvia Klinkenberg, Catharina G. Faber, Johan S. H. Vies, Jos G. M. Hendriksen
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2019)
Article
Clinical Neurology
Mieke C. E. Hermans, Ingemar S. J. Merkies, Luc Laberge, Eveline W. Blom, Alan Tennant, Catharina G. Faber
Review
Clinical Neurology
T. H. P. Draak, B. T. A. de Greef, C. G. Faber, I. S. J. Merkies
EUROPEAN JOURNAL OF NEUROLOGY
(2019)
Article
Biochemistry & Molecular Biology
Isis B. T. Joosten, Debby M. E. I. Hellebrekers, Bianca T. A. de Greef, Hubert J. M. Smeets, Christine E. M. de Die-Smulders, Catharina G. Faber, Monique M. Gerrits
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Neurosciences
Matthew Alsaloum, Julie I. R. Labau, Daniel Sosniak, Peng Zhao, Rowida Almomani, Monique Gerrits, Janneke G. J. Hoeijmakers, Giuseppe Lauria, Catharina G. Faber, Stephen G. Waxman, Sulayman Dib-Hajj
Summary: Small fiber neuropathy (SFN) can have no discernible cause, but mutations in the voltage-gated sodium channel alpha subunits have been implicated in some cases. This study identifies a patient with SFN who has a mutation in the auxiliary beta 2 subunit and no other discernible causes. Functional assessment confirms that this mutation leads to hyperexcitability in dorsal root ganglion neurons and upregulates tetrodotoxin-sensitive sodium currents. This research strengthens the emerging link between sodium channel beta 2 subunit mutations and human pain disorders.
JOURNAL OF NEUROPHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Milena Sleczkowska, Rowida Almomani, Margherita Marchi, Bianca T. A. de Greef, Maurice Sopacua, Janneke G. J. Hoeijmakers, Patrick Lindsey, Erika Salvi, Gidon J. Boenhof, Dan Ziegler, Rayaz A. Malik, Stephen G. Waxman, Giuseppe Lauria, Catharina G. Faber, Hubert J. M. Smeets, Monique M. Gerrits
Summary: Neuropathic pain is common in diabetic peripheral neuropathy (DN), and it may be caused by pathogenic ion channel gene variants. Variants in ion channel genes were found in DN patients with and without pain, suggesting their role in pain generation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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
Clinical Neurology
Isis B. T. Joosten, Corinne G. C. Horlings, Bettine A. H. Vosse, Anouk Wagner, David S. H. Bovenkerk, Reinder Evertz, Kevin Vernooy, Baziel G. M. van Engelen, Catharina G. G. Faber
Summary: Although the muscular phenotype of late-onset DM1 is milder compared with adult-onset DM1, the prevalence of conduction delay is similar. Subtype is unable to predict the presence of cardiac conduction delay. Despite an increased risk of NIV indication in adult-onset patients, 17% of late-onset patients also required NIV.
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
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
Cardiac & Cardiovascular Systems
Isis B. T. Joosten, Romy van Lohuizen, Dennis W. den Uijl, Reinder Evertz, Bianca T. A. de Greef, Baziel G. M. van Engelen, Catharina G. Faber, Kevin Vernooy
Summary: This study aimed to determine ECG criteria predicting abnormal infrahissian conduction in patients with DM1, finding that a combination of prolonged PR interval and widened QRS complex accurately predicts delayed conduction. These criteria could be used as a screening tool to identify the need for referral to a specialized team with EPS capacity.