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
Pharmacology & Pharmacy
Karen Libberecht, Tim Vangansewinkel, Ludo Van Den Bosch, Ivo Lambrichts, Esther Wolfs
Summary: This article reviews the role of protein quality control systems in CMT1 and introduces potential treatment strategies to restore proteostasis.
BIOCHEMICAL PHARMACOLOGY
(2023)
Review
Clinical Neurology
Miaomiao Ma, Yao Li, Shimiao Dai, Ming Chu, Litao Sun, Longjian Liu, Ji-Chang Zhou
Summary: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies (CMT & RIPNs) cause significant suffering and burden to patients, but there is a lack of comprehensive understanding of their global prevalence rates. Further epidemiological studies with well-defined diagnostic criteria are needed to improve the assessment of prevalence and raise awareness for better healthcare support.
JOURNAL OF NEUROLOGY
(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
Clinical Neurology
Rafael Sivera, Vincenzo Lupo, Marina Frasquet, Herminia Argente-Escrig, Jorge Alonso-Perez, Jordi Diaz-Manera, Luis Querol, Maria del Mar Garcia-Romero, Samuel Ignacio Pascual, Tania Garcia-Sobrino, Carmen Paradas, Juan Francisco Vazquez-Costa, Nuria Muelas, Elvira Millet, Juan Jesus Vilchez, Carmen Espinos, Teresa Sevilla
Summary: This study identified 15 patients with CMT2Z caused by MORC2 mutations in Spain, with most exhibiting a scapuloperoneal phenotype and a few showing a neurodevelopmental phenotype. The findings suggest a diverse spectrum of disease characteristics and clinical presentations.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Cell Biology
Cara R. Schiavon, Gerald S. Shadel, Uri Manor
Summary: CMT disease is a progressive, inherited neurological disorder associated with mutations in at least 80 different genes. Clinical manifestations typically involve peripheral neurons, with some mutations potentially leading to mitochondrial mobility defects, suggesting a common underlying disease mechanism.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Genetics & Heredity
Yuji Okamoto, Hiroshi Takashima
Summary: Charcot-Marie-Tooth disease (CMT) is the most common genetically transmitted neuromuscular condition without effective pharmacological treatments. The genetic heterogeneity of CMT poses a significant barrier to comprehensive therapies. This review discusses prospective therapeutic strategies for common CMT variants and evaluates the progress in gene therapy techniques, which have the potential to advance future research.
Review
Clinical Neurology
Alessandra Bolino, Maurizio D'Antonio
Summary: Charcot-Marie-Tooth (CMT) neuropathies, despite a large number of identified causative genes, lack effective therapeutic options. However, recent advances in understanding disease mechanisms, animal modeling, and gene and molecular therapies have greatly improved the prospects of treating CMT, with several strategies progressing towards clinical trials.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Clinical Neurology
Adriana P. Rebelo, Andrea Cortese, Amit Abraham, Yael Eshed-Eisenbach, Gal Shner, Anna Vainshtein, Elena Buglo, Vladimir Camarena, Gabriel Gaidosh, Ramin Shiekhattar, Lisa Abreu, Steve Courel, Dennis K. Burns, Yunhong Bai, Chelsea Bacon, Shawna M. E. Feely, Diana Castro, Elior Peles, Mary M. Reilly, Michael E. Shy, Stephan Zuchner
Summary: The CADM family of proteins mediate direct contact and interaction between axons and glia, with mutations in CADM3 potentially causing abnormal axon-glia interaction and disease manifestation in CMT patients.
Article
Clinical Neurology
Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti
Summary: This study identified two cases of biallelic HSPB1 p.S135F and p.R136L mutations in two families, confirming their association with severe CMT2F/dHMN and a strictly dominant inheritance pattern.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Clinical Neurology
S. Beloribi-Djefaflia, S. Attarian
Summary: Charcot-Marie-Tooth (CMT) is a group of inherited neuropathies that affect peripheral nerves and cause progressive disability. Despite the lack of effective treatment, significant progress has been made in understanding the genetic mutations and pathways involved in CMT, leading to the identification of potential therapeutic targets. Genetic therapy, such as gene silencing or expression, and the use of inhibitors and modulators show promise in treating different types of CMT.
REVUE NEUROLOGIQUE
(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, 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
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
Ru-Ying Yuan, Zi-Ling Ye, Xiao-Rong Zhang, Liu-Qing Xu, Jin He
Summary: The study confirmed SORD mutations as a causative factor for CMT and expanded the mutational and phenotypic spectrum of SORD-related CMT.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Cell & Tissue Engineering
Joseph S. Uzarski, Brent M. Bijonowski, Bo Wang, Heather H. Ward, Angela Wandinger-Ness, William M. Miller, Jason A. Wertheim
TISSUE ENGINEERING PART C-METHODS
(2015)
Article
Multidisciplinary Sciences
Joseph S. Uzarski, Jimmy Su, Yan Xie, Zheng J. Zhang, Heather H. Ward, Angela Wandinger-Ness, William M. Miller, Jason A. Wertheim
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2015)
Article
Surgery
M. Caralt, J. S. Uzarski, S. Iacob, K. P. Obergfell, N. Berg, B. M. Bijonowski, K. M. Kiefer, H. H. Ward, A. Wandinger-Ness, W. M. Miller, Z. J. Zhang, M. M. Abecassis, J. A. Wertheim
AMERICAN JOURNAL OF TRANSPLANTATION
(2015)
Article
Biochemistry & Molecular Biology
Soumik BasuRay, Sanchita Mukherjee, Elsa G. Romero, Matthew N. J. Seaman, Angela Wandinger-Ness
JOURNAL OF BIOLOGICAL CHEMISTRY
(2013)
Article
Biochemistry & Molecular Biology
Lin Hong, S. Ray Kenney, Genevieve K. Phillips, Denise Simpson, Chad E. Schroeder, Julica Noeth, Elsa Romero, Scarlett Swanson, Anna Waller, J. Jacob Strouse, Mark Carter, Alexandre Chigaev, Oleg Ursu, Tudor Oprea, Brian Hjelle, Jennifer E. Golden, Jeffrey Aube, Laurie G. Hudson, Tione Buranda, Larry A. Sklar, Angela Wandinger-Ness
JOURNAL OF BIOLOGICAL CHEMISTRY
(2013)
Article
Urology & Nephrology
Sherry G. Clendenon, Heather H. Ward, Kenneth W. Dunn, Robert Bacallao
KIDNEY INTERNATIONAL
(2013)
Article
Multidisciplinary Sciences
Brittney-Shea Herbert, Brenda R. Grimes, Wei Min Xu, Michael Werner, Christopher Ward, Sandro Rossetti, Peter Harris, Elsa Bello-Reuss, Heather H. Ward, Caroline Miller, Vincent H. Gattone, Carrie L. Phillips, Angela Wandinger-Ness, Robert L. Bacallao
Article
Multidisciplinary Sciences
Stephanie Jerman, Heather H. Ward, Rebecca Lee, Carla A. M. Lopes, Andrew M. Fry, Mary MacDougall, Angela Wandinger-Ness
Article
Physiology
Jennifer L. Riggs, Carolyn E. Pace, Heather H. Ward, Laura Gonzalez Bosc, Lynnette Rios, Adelaeda Barrera, Nancy L. Kanagy
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2018)
Meeting Abstract
Cell Biology
H. H. Ward, J. M. Young, V. J. Yao, M. Cardo Vila, J. S. Uzarski, J. A. Wertheim, W. Arap, R. Pasqualini, A. Wandinger-Ness
MOLECULAR BIOLOGY OF THE CELL
(2017)
Meeting Abstract
Biochemistry & Molecular Biology
Jennifer L. Riggs, Carolyn E. Pace, Wiesiawa Giermakowska, Heather H. Ward, Laura V. Gonzalez Bosc, Nancy L. Kanagy
Article
Genetics & Heredity
Rita M. C. de Almeida, Sherry G. Clendenon, William G. Richards, Michael Boedigheimer, Michael Damore, Sandro Rossetti, Peter C. Harris, Britney-Shea Herbert, Wei Min Xu, Angela Wandinger-Ness, Heather H. Ward, James A. Glazier, Robert L. Bacallao
Meeting Abstract
Cell & Tissue Engineering
J. S. Uzarski, H. H. Ward, A. Wandinger-Ness, W. M. Miller, J. A. Wertheim
TISSUE ENGINEERING PART A
(2015)
Meeting Abstract
Cell & Tissue Engineering
J. S. Uzarski, B. M. Bijonowski, H. Ward, A. Wandinger-Ness, W. M. Miller, J. A. Wertheim
TISSUE ENGINEERING PART A
(2014)