Article
Clinical Neurology
Charlotte Gineste, Alix Simon, Marie Braun, David Reiss, Jocelyn Laporte
Summary: The study shows that tamoxifen can improve muscle function and structure in mouse models of BIN1 and DNM2-related centronuclear myopathies, likely by reducing dynamin 2 levels. This suggests the potential repurposing of tamoxifen for the treatment of autosomal forms of centronuclear myopathies.
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
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
Menelaos Pipis, Andrea Cortese, James M. Polke, Roy Poh, Jana Vandrovcova, Matilde Laura, Mariola Skorupinska, Arnaud Jacquier, Raul Juntas-Morales, Philippe Latour, Philippe Petiot, Guilhem Sole, Yves Fromes, Sachit Shah, Julian Blake, Byung-Ok Choi, Ki Wha Chung, Tanya Stojkovic, Alexander M. Rossor, Mary M. Reilly
Summary: This study reveals the unique phenotype of CMT2CC, which is more similar to spinal muscular atrophy than classic CMT. The disease progresses rapidly, requiring wheelchair use at an early stage and exhibiting early ankle plantarflexion weakness in a significant portion of patients.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
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)
Article
Clinical Neurology
Paulo Jose Lorenzoni, Claudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Lineu Cesar Werneck, Rosana Herminia Scola
Summary: This report describes a patient with CMT4C who developed myasthenia gravis, suggesting the need for further research to confirm whether genetic neuropathies may predispose to MG.
NEUROLOGICAL SCIENCES
(2022)
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
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
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.
Review
Acoustics
R. A. M. Y. Abdelnaby, A. N. A. S. ELGENIDY, Yousef tarek Sonbol, Khaled tarek Dardeer, Mohamed ayman Ebrahim, I. M. E. N. E. Maallem, Merna wagih Youssef, Mostafa hossam el din Moawad, Youssef gamal Hassan, Salma adel Rabie, Mohammed khaled Mohammed, Hasnaa ali hassan Abdelrhem, Khaled ashraf Mohamed, U. W. E. Walter
Summary: Due to its insidious character and variations in symptoms, diagnosing Charcot-Marie-Tooth (CMT) disease in children is challenging. This study conducted a systematic review and meta-analysis to evaluate the effectiveness of ultrasound in investigating nerve cross-sectional area (CSA) in CMT patients. The results showed the potential of ultrasound as a diagnostic tool for CMT.
ULTRASOUND IN MEDICINE AND BIOLOGY
(2022)
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)
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
Biology
Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
Summary: This study presents the results of a CMT clinic in Italy, showing that CMT1A is the most common subtype and HSPB1 and MPZ genes are related to a distinct phenotype.
Review
Genetics & Heredity
Laura Morant, Maria-Luise Erfurth, Albena Jordanova
Summary: CMT is a common neuromuscular disorder, with aaRS mutations causing different subtypes and similar clinical manifestations. Drosophila models are valuable for studying the molecular pathways of CMT and testing candidate drugs.