Article
Neurosciences
Sylvia Ounpuu, Erin Garibay, Gyula Acsadi, Michael Brimacombe, Kristan Pierz
Summary: The study showed that ankle foot orthoses can improve walking velocity and selected ankle kinematics and kinetics in children with CMT. However, the effectiveness of AFOs may vary for patients with different ankle kinematic characteristics.
Article
Neurosciences
Elizabeth A. Wojciechowski, Tegan L. Cheng, Sean M. Hogan, Anita J. Mudge, Daniel Balassone, Manoj P. Menezes, David G. Little, Leanne N. Dwan, Joshua Burns
Summary: This study aims to determine how 3D printing can be used to replicate and redesign ankle-foot orthoses (AFOs) in children with Charcot-Marie-Tooth disease (CMT). The study found that 3D printing can replicate traditional handmade AFOs and produce a lighter device with improved biomechanics by incorporating novel design features.
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
Neurosciences
Daniel S. Peterson, Allison Moore, Edward Ofori
Summary: In individuals with Charcot-Marie-Tooth disease, gait outcomes change significantly with fatigue, correlating with general life satisfaction but not perceived fatigue. This suggests performance fatigability during gait could be a target for rehabilitation for individuals with Charcot-Marie-Tooth disease.
Article
Clinical Neurology
Riccardo Zuccarino, Kirsten M. Anderson, Michael E. Shy, Jason M. Wilken
Summary: The study found that over one-third of individuals with Charcot-Marie-Tooth disease were dissatisfied with the appearance, comfort, and pain associated with ankle foot orthoses. However, their ratings of orthotic services were generally positive. This indicates that there is still room for improvement in AFO development.
Review
Neurosciences
Chiara Rambelli, Davide Mazzoli, Martina Galletti, Giacomo Basini, Paolo Zerbinati, Paolo Prati, Francesca Mascioli, Stefano Masiero, Andrea Merlo
Summary: The study conducted a scoping review on the clinical scales used to assess foot deviations in CMT patients and analyzed their metric properties. It found that the six-item version of the FPI scale (FPI-6) is recommended for foot assessment in the CMT population, with scoring provided by Rasch Analysis. This scale has demonstrated high applicability, good psychometric properties, and is easy to learn and use in clinical settings.
FRONTIERS IN HUMAN NEUROSCIENCE
(2022)
Review
Biotechnology & Applied Microbiology
Julio S. Lora-Millan, Mahdi Nabipour, Edwin van Asseldonk, Cristina Bayon
Summary: Assistive ankle-foot orthoses (AAFOs) are powerful solutions for gait assistance or rehabilitation. This research analyzes the latest AAFO technologies and categorizes the different approaches into clusters based on their basis and working principles. It also reviews the purpose and experimental validation of the devices, providing insights into their technology readiness level. The reviewed designs, limitations, and future directions in this field are summarized and discussed.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(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)
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)
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
Neurosciences
Mariapaola Sidoli, Chelsey B. Reed, Cristina Scapin, Pablo Paez, Douglas R. Cavener, Randal J. Kaufman, Maurizio D'Antonio, M. Laura Feltri, Lawrence Wrabetz
Summary: Despite the interaction between Perk and calcineurin in P0S63del nerves, Perk deletion paradoxically improved S63del myelin defects. Additionally, genetic manipulation of calcineurin subunits showed context-dependent protective or toxic effects in S63del, suggesting high sensitivity of Schwann cells to alterations in calcineurin activity.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Computer Science, Interdisciplinary Applications
Grace Marconi, Alpha Agape Gopalai, Sunita Chauhan
Summary: This simulation study investigated the effects of mass and mass distribution of powered ankle-foot orthoses on net joint moments and individual muscle forces in the lower limb. Ten subjects' gait cycles were analyzed using OpenSim tools. It was found that distributing the mass of the orthosis more distally and posteriorly on the leg negatively impacted net joint moments and overall lower limb muscle forces. However, individual muscle forces showed varying results due to factors such as the flow-on effect of the orthosis, antagonistic muscle pairing, and interplay between individual muscles. The optimization of mass and mass distribution of powered ankle-foot orthoses can better mimic natural kinetics, reducing net joint moments and overall muscle forces, while considering individual muscles to prevent muscle fatigue or disuse.
MEDICAL & BIOLOGICAL ENGINEERING & COMPUTING
(2023)
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.
Article
Neurosciences
Sylvia Ounpuu, Kristan Pierz, Wendy J. Mack, Jennifer Rodriguez-MacClintic, Gyula Acsadi, Tishya A. L. Wren
Summary: Understanding the variations in ankle kinematics and kinetics based on age, disease progression, and CMT type is crucial for evaluating treatment outcomes and developing new therapies to improve gait in youth with CMT types 1 and 2.
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)
Article
Obstetrics & Gynecology
Mariola Skorupinska, Gita Ramdharry, Bridgette Byrne, Matilde Laura, Mary M. Reilly
Summary: This study aimed to assess the impact of pregnancy on Charcot-Marie-Tooth and how Charcot-Marie-Tooth affects pregnancy, delivery, and postnatal care. The results showed that 37% of pregnant patients reported worsening of Charcot-Marie-Tooth symptoms, but symptoms improved after delivery in half of the patients. There was no significant increase in pregnancy, delivery, and anesthesia complications compared to the normal population.
OBSTETRIC MEDICINE
(2023)
Article
Clinical Neurology
Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, Fabiola De Marchi, Lucia Galan, Jeannine M. Heckmann, Alejandro Horga, Maria J. Molnar, Acary S. B. Oliveira, Wladimir B. V. R. Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo V. Sgobbi Souza, Vishnu Venugopalan, Michael G. Hanna, Mazen M. Dimachkie, Pedro M. Machado
Summary: Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases (NMDs) include age, race/ethnicity, baseline functional status, comorbidities, history of respiratory dysfunction, obesity, number of comorbidities, glucocorticoid treatment, and Guillain-Barre syndrome.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Christopher J. Record, Menelaos Pipis, Roy Poh, James M. Polke, Mary M. Reilly
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Medicine, Research & Experimental
Laurence Edward Lee, Stefan Tino Kulnik, Geoffrey M. Curran, Annette Boaz, Gita M. Ramdharry
Summary: This study aims to explore the feasibility of delivering, evaluating, and implementing the Neuromuscular Bridges program in a specialist neuromuscular centre. The study employs a hybrid II design underpinned by Normalisation Process Theory (NPT) to assess the feasibility of the program.
PILOT AND FEASIBILITY STUDIES
(2023)
Article
Oncology
Orla McCourt, Abigail Fisher, Gita Ramdharry, Joanne Land, Anna L. Roberts, Neil Rabin, Kwee Yong
Summary: This study aimed to investigate the feasibility of a physiotherapist-led exercise intervention during the autologous stem cell transplant (ASCT) pathway for myeloma patients in the UK. The results showed that exercise intervention before, during, and after ASCT can improve patients' quality of life, fatigue levels, and functional capacity.
Article
Clinical Neurology
Tyler Rehbein, Tong Tong Wu, Simona Treidler, Davide Pareyson, Richard Lewis, Sabrina W. Yum, Brett A. McCray, Sindhu Ramchandren, Joshua Burns, Jun Li, Richard S. Finkel, Steven S. Scherer, Stephan Zuchner, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Summary: Recessive SH3TC2 variants cause CMT4C, a disease with variable clinical characteristics. Longitudinal analysis of 56 patients showed that CMTES and CMTES-R scores were moderately responsive to change over 3 years, indicating their usefulness in assessing disease progression.
Letter
Clinical Neurology
Amanda J. J. Male, Sarah L. L. Holmes, Michael G. G. Hanna, Robert D. S. Pitceathly, Gita M. M. Ramdharry, Diego Kaski
JOURNAL OF NEUROLOGY
(2023)
Correction
Clinical Neurology
Amanda J. Male, Sarah L. Holmes, Michael G. Hanna, Robert D. S. Pitceathly, Gita M. Ramdharry, Diego Kaski
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Lindsay N. Alfano, Meredith K. James, Gita M. Ramdharry, Linda P. Lowes
NEUROMUSCULAR DISORDERS
(2023)
Article
Rehabilitation
Enza Leone, Sally Davenport, Claire Robertson, Matilde Laura, Mariola Skorupinska, Mary M. Reilly, Gita Ramdharry
Summary: This study aimed to determine the incidence of PF dislocation in adults with CMT and explore the risk factors associated with it. The results showed that PF dislocation was common in CMT patients and was associated with multiple risk factors.
PHYSIOTHERAPY RESEARCH INTERNATIONAL
(2023)
Article
Clinical Neurology
Lindsay A. Wilson, William L. Macken, Luke D. Perry, Christopher J. Record, Katherine Schon, Rodrigo S. S. Frezatti, Sharika Raga, Kireshnee Naidu, Ozlem Yayici Koken, Ipek Polat, Musambo M. Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R. Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J. L. F. Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Topf, Christina I. Trainor, Elizabeth C. Steyn, Amokelani C. Mahungu, Patrick J. van der Vliet, Ahmet Cevdet Ceylan, A. Semra Hiz, Busranur Cavdarli, C. Nur Semerci Gunduz, Gulay Gulec Ceylan, Madhu Nagappa, Karthik B. Tallapaka, Periyasamy Govindaraj, Silvere M. van der Maarel, Gayathri Narayanappa, Bevinahalli N. Nandeesh, Somwe Wa Somwe, David R. Bearden, Michelle P. Kvalsund, Gita M. Ramdharry, Yavuz Oktay, Uluc Yis, Haluk Topaloglu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M. Wilmshurst, Jeannine M. Heckmann, Robert McFarland, Robert W. Taylor, Izelle Smuts, Francois H. van der Westhuizen, Claudia Ferreira da Rosa Sobreira, Pedro J. Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin Dalal, M. V. Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Y. Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F. Chinnery, Robert D. S. Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M. Reilly, Michael G. Hanna
Summary: This study established a remote transcontinental partnership to evaluate the genetic architecture of neuromuscular diseases in diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counseling, improving care pathways, and making patients eligible for gene-specific trials. Similar virtual partnerships could be adopted in other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients worldwide.
Review
Clinical Neurology
Caroline Kramarz, Elaine Murphy, Mary M. Reilly, Alexander M. Rossor
Summary: Nutritional peripheral neuropathies are a global issue influenced by geopolitical, cultural, and socioeconomic factors. B-vitamin deficiencies, particularly in vitamins B-1, B-2, B-6, B-9, and B-12, are the most common cause of peripheral neuropathy. This review discusses the historical and current understanding of these deficiencies, as well as diagnostic tools and genetic diseases related to B-vitamin metabolism. Endemic outbreaks of peripheral neuropathy in the past centuries further emphasize the importance of identifying and preventing nutritional deficiencies to reduce disability.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Rehabilitation
Orla McCourt, Abigail Fisher, Joanne Land, Gita Ramdharry, Kwee Yong
Summary: This study aims to explore the reasons for declining participation in a rehabilitation trial among cancer survivors. Interviews with 18 myeloma patients revealed that travel difficulties, lack of individualized support, underestimation and neglect of the personal impact of treatment side effects were the main barriers to participation.
PHYSIOTHERAPY THEORY AND PRACTICE
(2023)
Review
Rheumatology
Bhaskar Roy, Matteo Lucchini, James B. Lilleker, Namita A. Goyal, Elie Naddaf, Brittany Adler, Lindsay N. Alfano, Georgia A. Malandraki, Kendrea L. (Focht) Garand, David Mochel, Umesh Badrising, Pedro M. Machado, Ruben Pagkatipunan, Gita Ramdharry, Leo Wang, Melissa C. Funaro, Jens Schmidt, Hani Kushlaf, Elena Schiopu, Kaila Stipancic, Neelam Goyal, Miriana d'Alessandro, Edoardo Conticini, Betsaida Cruz-Coble, Thomas E. Lloyd
Summary: This article reviews the outcome measures used in clinical studies of IBM and highlights the inconsistencies and lack of suitable measures for assessing interventions in IBM. It suggests the need for a specific set of outcome measures for IBM to evaluate new potential therapeutics.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)
