Article
Clinical Neurology
Christopher P. Ptak, Tabitha A. Peterson, Jesse B. Hopkins, Christopher A. Ahern, Michael E. Shy, Robert C. Piper
Summary: Mutations in MPZ can cause various neurological disorders, and the study focuses on understanding how MPZ functions and forms oligomeric assemblies.
Article
Clinical Neurology
Vera Fridman, Stefan Sillau, Jacob Bockhorst, Kaitlin Smith, Isabella Moroni, Emanuela Pagliano, Chiara Pisciotta, Guiseppe Piscosquito, Matilde Laura, Francesco Muntoni, Chelsea Bacon, Shawna Feely, Tiffany Grider, Laurie Gutmann, Rosemary Shy, Janel Wilcox, David N. Herrmann, Jun Li, Sindhu Ramchandren, Charlotte J. Sumner, Thomas E. Lloyd, John Day, Carly E. Siskind, Sabrina W. Yum, Reza Sadjadi, Richard S. Finkel, Steven S. Scherer, Davide Pareyson, Mary M. Reilly, Michael E. Shy
Summary: This study conducted a 5-year longitudinal natural history study on 139 patients with MPZ neuropathy and found that CMTES score was sensitive to changes in patients with axonal MPZ neuropathy but not in those with demyelinating forms. Patients with moderate baseline disease severity showed the greatest changes. These findings will inform future clinical trials of MPZ neuropathies.
ANNALS OF NEUROLOGY
(2023)
Article
Health Care Sciences & Services
Jihyun Park, So Young Joo, Byung-Ok Choi, Dae-Hyun Kim, Jong Bum Park, Jong Weon Lee, Deog Young Kim
Summary: This study evaluated the characteristics of gait patterns in CMT1A patients and classified them according to disease severity. The results showed significant differences in gait parameters between CMT1A patients and healthy controls, as well as variations in gait patterns within different severity groups.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Marina Stavrou, Irene Sargiannidou, Elena Georgiou, Alexia Kagiava, Kleopas A. Kleopa
Summary: CMT disease is a genetically heterogeneous disorder affecting the peripheral nerves, with diverse molecular genetic mechanisms discovered over the past three decades. There are currently various treatment approaches in preclinical testing and clinical trials, including disease-specific targeted therapies and treatments targeting common pathways shared by different CMT types. As promising treatments advance to clinical translation, optimizing outcome measures, novel biomarkers, and appropriate trial designs are crucial to facilitate successful testing and validation of novel treatments for CMT patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Clinical Neurology
Brett A. McCray, Steven S. Scherer
Summary: Inherited peripheral neuropathies are a group of genetically and phenotypically diverse disorders that result in degeneration of peripheral neurons, leading to sensory and motor dysfunction. Recent research has identified common pathological mechanisms among these diseases, including defects in axonal transport, mitochondrial dynamics, organelle-organelle contacts, and local axonal protein translation. These insights have informed emerging treatment strategies for inherited neuropathies, offering promising therapeutic opportunities.
Article
Genetics & Heredity
Xiaoyan Hao, Chong Li, Yunguo Lv, Tongtong Zhou, Hao Tian, Yaru Ma, Jiangwei Ding, Xinxiao Li, Yangyang Wang, Lei Wang, Ping Yang
Summary: The study revealed the association of the c.389A > G (p.Lys130Arg) variant in the MPZ gene with CMT in Chinese individuals, clarifying its pathogenicity through pedigrees and peripheral blood functional studies. The results showed that this variant led to an elevation in MPZ and phosphorylated MPZ levels in peripheral blood, and was associated with different clinical phenotypes.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Clinical Neurology
Alessandro Bertini, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Matteo Tagliapietra, Marina Grandis, Stefano Carlo Previtali, Yuri Matteo Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Irene Tramacere, Eleonora Cavalca, Paola Saveri, Andrea Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Valeria Prada, Riccardo Zuccarino, Francesco Ferraro, Chiara Pisciotta, Davide Pareyson, Italian CMT Network
Summary: This study investigated the use, benefits, and tolerance of shoe inserts, orthopaedic shoes, and ankle-foot orthoses (AFOs) in Charcot-Marie-Tooth disease (CMT) patients. The results showed that although most patients were prescribed these devices, there was a low usage rate and high rates of complications and emotional distress, leading to reduced use of AFOs. Thus, a patient-oriented and multidisciplinary approach to orthoses prescription should be encouraged.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bahler, Alessandra Bolino
Summary: The study identified that novel or very rare variants in the MYO9B gene are associated with CMT2 and isolated OA. Functional studies showed that variants in MYO9B impair protein expression level and motor activity, indicating its essential role in peripheral and central nervous system axons.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Summary: This article describes the clinical and genetic characteristics of a 6-year-old male with Charcot-Marie-Tooth disease (CMT). A novel MPZ mutation was found in the proband, as well as in his father who exhibited deformity of the feet and distal muscle weakness. The mutation was responsible for early onset but slowly progressive CMT1B, highlighting the importance of whole exome sequencing in diagnosing CMT associated with MPZ gene mutations.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2022)
Article
Clinical Neurology
Andrea Cortese, Riccardo Curro, Riccardo Ronco, Julian Blake, Alex M. Rossor, Enrico Bugiardini, Matilde Laura, Tom Warner, Tarek Yousry, Roy Poh, James Polke, Adriana Rebelo, Maike F. Dohrn, Mario Saporta, Henry Houlden, Stephan Zuchner, Mary M. Reilly
Summary: Mutations in the CRYAB gene have been associated with myofibrillar myopathy, dilated cardiomyopathy, and cataracts. This study reports peripheral neuropathy as a novel phenotype associated with CRYAB, particularly in cases with late onset CMT2 and congenital cataracts.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Marta Bellofatto, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Daniela Calabrese, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Chiara Pisciotta, Davide Pareyson
Summary: This study investigated fatigue in CMT patients and found that 36% of the patients experienced abnormal fatigue. Abnormal fatigue was correlated with disease severity, anxiety, depression, sleepiness, and obesity. Therefore, the management of CMT patients should involve treating fatigue and addressing other factors such as anxiety, depression, sleepiness, and obesity.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Marta Bellofatto, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Daniela Calabrese, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Chiara Pisciotta, Davide Pareyson
Summary: This study investigated the presence of fatigue and its correlations in Charcot-Marie-Tooth disease (CMT). The results showed that 36% of the patients had abnormal fatigue, which was correlated with disease severity, anxiety, depression, sleepiness, and obesity. Therefore, the management of CMT patients should include treatment for fatigue and its different generators.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Marta Bellofatto, Luca Gentile, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano Previtali, Marina Scarlato, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Flavio Villani, Eleonora Cavalca, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Giuseppe Didato, Chiara Pisciotta, Davide Pareyson, CMT Network
Summary: This study investigated the presence of sleep abnormalities in Charcot-Marie-Tooth disease (CMT) patients and their correlation with disease severity and characteristics. The results showed that CMT patients had poor sleep quality and daytime somnolence, which were associated with anxiety, depression, and fatigue.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Luce Barbat du Closel, Nathalie Bonello-Palot, Yann Pereon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Simon Frachet, Laurent Magy, Julien Cassereau, Pascal Cintas, Ariane Choumert, Perrine Devic, Sarah Leonard Louis, Robinson Gravier Dumonceau, Emilien Delmont, Emmanuelle Salort-Campana, Francoise Bouhour, Philippe Latour, Tanya Stojkovic, Shahram Attarian
Summary: This study investigated the clinical presentation of patients with CMTX1 and found that women usually have milder clinical symptoms compared to men. The study also identified two subgroups of women over the age of 48, with one group showing similar disease progression to men.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biology
Hye Mi Kwon, Hyun Su Kim, Sang Beom Kim, Jae Hong Park, Da Eun Nam, Ah Jin Lee, Soo Hyun Nam, Soohyun Hwang, Ki Wha Chung, Byung-Ok Choi
Summary: Through studying Korean CMT families, it was found that mutations in the GNB4 gene can cause not only intermediate type CMT, but also demyelinating-type neuropathy. Patients with the p.Lys89Glu mutation exhibited distinct demyelinating pathologic features and abnormalities in muscle MRI. Therefore, these findings are helpful for the differential diagnosis of CMT patients with unknown GNB4 variants.
Article
Anesthesiology
Emmanuel Backryd, Andreas Themistocleous, Anders Larsson, Torsten Gordh, Andrew S. C. Rice, Solomon Tesfaye, David L. Bennett, Bjorn Gerdle
Summary: This study aims to explore the pathophysiological mechanisms underlying neuropathic pain in patients with diabetic DSP. It suggests that low-grade systemic inflammation is related to the severity of neuropathy and neuropathic pain, and identifies specific inflammation-related proteins such as hepatocyte growth factor, colony-stimulating factor 1, and CD40 that may play a crucial role in neuropathic pain.
Article
Anesthesiology
Oliver Sandy-Hindmarch, David L. Bennett, Akira Wiberg, Dominic Furniss, Georgios Baskozos, Annina B. Schmid
Summary: The role of inflammation in human nerve injury and neuropathic pain is still not fully understood. This study investigated the changes in cytokine protein levels and gene expression levels before and after carpal tunnel decompression surgery in patients with carpal tunnel syndrome. The results showed specific dysregulation of systemic cytokine expression in both the active and resolution phases of nerve injury and neuropathic pain, suggesting the involvement of inflammation in the resolution of neuropathic pain.
Article
Clinical Neurology
Andreas C. Themistocleous, Alexander G. Kristensen, Roma Sola, Sandra S. Gylfadottir, Kristine Bennedsgaard, Mustapha Itani, Thomas Kroigard, Lise Ventzel, Soren H. Sindrup, Troels S. Jensen, Hugh Bostock, Jordi Serra, Nanna B. Finnerup, Hatice Tankisi, David L. H. Bennett
Summary: A multicenter observational study found no significant difference in axonal excitability between patients with painful and painless diabetic or chemotherapy-induced polyneuropathy.
ANNALS OF NEUROLOGY
(2022)
Article
Surgery
A. Wiberg, R. W. Smillie, S. Dupre, A. B. Schmid, D. L. Bennett, D. Furniss
Summary: This study utilized the UK Biobank resource to investigate factors associated with carpal tunnel syndrome (CTS), and found that female sex, high BMI, and certain systemic diseases are associated with CTS.
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY
(2022)
Editorial Material
Neurosciences
Jimena Perez-Sanchez, David L. Bennett
Summary: The study showed that sensory neurons are enriched for anthrax toxin receptor-2. Edema toxin acts through this receptor to induce analgesia in mice, and can also be modified to deliver large cargoes like botulinum toxin to selectively silence sensory neurons.
NATURE NEUROSCIENCE
(2022)
Article
Anesthesiology
Daniela Schmidt, Paula Diaz, Daniela Munoz, Fernanda Espinoza, Alexander Nystrom, Ignacia Fuentes, Marcelo Ezquer, David L. Bennett, Margarita Calvo
Summary: In this study, a mouse model of RDEB was used to investigate the characteristics of the somatosensory system. The results showed that in RDEB, there is distal axonal degeneration caused by damage to small fibres in the epidermis, but without sustained neuroinflammation. This highlights the importance of a healthy cutaneous environment for maintaining epidermal innervation in RDEB patients.
Article
Multidisciplinary Sciences
Sandra Sif Gylfadottir, Mustapha Itani, Alexander Gramm Kristensen, Pall Karlsson, Thomas Kroigard, David L. Bennett, Hatice Tankisi, Niels Trolle Andersen, Troels Staehelin Jensen, Soren Hein Sindrup, Nanna Brix Finnerup
Summary: This study characterized the predictors, symptoms, neuropathy severity, and impact of painful and dysesthetic diabetic polyneuropathy (DPN). The results showed a gradient of increasing sensory loss from DPN without pain or dysesthesia to dysesthetic DPN and to painful DPN, indicating a more severe neuropathy in dysesthetic patients compared to those without dysesthesia but less severe than those with painful DPN. Pain and dysesthesia were common in DPN and both significantly interfered with daily life. Therefore, considering dysesthesia is important in the diagnosis and treatment of neuropathy.
Article
Medical Informatics
Georgios Baskozos, Andreas C. Themistocleous, Harry L. Hebert, Mathilde M. Pascal, Jishi John, Brian C. Callaghan, Helen Laycock, Yelena Granovsky, Geert Crombez, David Yarnitsky, Andrew S. C. Rice, Blair H. Smith, David L. H. Bennett
Summary: This study used machine learning models to classify painful and painless Diabetic Peripheral Neuropathy (DPN) and identified important predictors such as quality of life, personality traits, and clinical variables. The models showed good performance in accurately classifying DPN and have potential clinical applications for improving diagnosis and outcomes.
BMC MEDICAL INFORMATICS AND DECISION MAKING
(2022)
Article
Clinical Neurology
Kristine Bennedsgaard, Kasper Grosen, Nadine Attal, Didier Bouhassira, Geert Crombez, Troels S. Jensen, David L. Bennett, Lise Ventzel, Inge S. Andersen, Nanna B. Finnerup
Summary: This study investigated the symptoms, intensity, and interference of chemotherapy-induced peripheral neuropathy (CIPN) in breast cancer survivors. It found that although less common, foot pain in patients who received chemotherapy was more intense and had a higher interference with daily life compared to pain in the surgical area.
SCANDINAVIAN JOURNAL OF PAIN
(2023)
Review
Clinical Neurology
Molly G. Abbott, Zahra Allawi, Monika Hofer, Olaf Ansorge, Stefen Brady, Ricardo Fadic, Gustavo Torres, Ravi Knight, Margarita Calvo, David L. H. Bennett, Andreas C. Themistocleous
Summary: This article describes three cases of acute small fiber neuropathy following Oxford-AstraZeneca ChAdOx1-S vaccination. The patients presented with neuropathic pain symptoms accompanied by clinical findings, but laboratory tests and imaging studies showed no significant abnormalities. The symptoms persisted for several months in two cases.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Article
Clinical Neurology
Leah Shafran Topaz, Alex Frid, Yelena Granovsky, Rabab Zubidat, Shoshana Crystal, Chen Buxbaum, Noam Bosak, Rafi Hadad, Erel Domany, Tayir Alon, Lian Meir Yalon, Merav Shor, Mogher Khamaisi, Irit Hochberg, Nataliya Yarovinsky, Zeev Volkovich, David L. Bennett, David Yarnitsky
Summary: This study successfully differentiated painful from non-painful diabetic polyneuropathy patients using resting state EEG data analysis. The functional connectivity derived from EEG can serve as a biomarker for the presence or absence of pain in these patients.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Harry L. Hebert, Abirami Veluchamy, Georgios Baskozos, Francesca Fardo, Dimitri Van Ryckeghem, Ewan R. Pearson, Lesley A. Colvin, Geert Crombez, David L. H. Bennett, Weihua Meng, Colin N. A. Palmer, Blair H. Smith
Summary: This study aimed to develop and externally validate two clinical risk models for predicting onset and resolution of chronic neuropathic pain. The models included psychosocial and lifestyle factors, and showed adequate discrimination but miscalibration in external validation. These risk models are of significant importance for patients and clinicians, as they can guide preventive and remedial measures.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Ralf Baron, Anthony H. Dickenson, Margarita Calvo, Sulayman D. Dib-Hajj, David L. Bennett
Summary: Despite research advances, treatment of neuropathic pain is still inadequate. Rational stratification of patients and development of outcome measures could improve treatment outcomes, but further research is needed for their application in clinical practice and trials.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Clinical Neurology
Andrea Truini, Katina Aleksovska, Cristopher C. Anderson, Nadine Attal, Ralf Baron, David L. Bennett, Didier Bouhassira, Giorgio Cruccu, Elon Eisenberg, Elena Enax-Krumova, Karen Deborah Davis, Giulia Di Stefano, Nanna B. Finnerup, Luis Garcia-Larrea, Ibrahem Hanafi, Simon Haroutounian, Pall Karlsson, Martin Rakusa, Andrew S. C. Rice, Juliane Sachau, Blair H. Smith, Claudia Sommer, Thomas Toelle, Josep Valls-Sole, Abirami Veluchamy
Summary: This article aims to develop evidence-based recommendations for the use of screening questionnaires and diagnostic tests in patients with neuropathic pain. Researchers systematically reviewed studies to assess the sensitivity and specificity of various screening questionnaires and diagnostic tests, and provided corresponding recommendations. However, further large-scale, well-designed, multicenter studies are needed to evaluate the accuracy of these diagnostic tests.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Neurosciences
Stephanie A. Eid, Amy E. Rumora, Bogdan Beirowski, David L. Bennett, Junguk Hur, Masha G. Savelieff, Eva L. Feldman
Summary: The prevalence of diabetes is increasing due to the aging population, with type 2 diabetes being the most common type. Diabetic peripheral neuropathy is a complication that damages peripheral nerves and is influenced by metabolic and bioenergetic dysfunction. Recent evidence suggests that obesity and dyslipidemia also contribute to this condition.