ArticleNeurology2024
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
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Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.Clinical genetics · 2026Review
- Unmasking the Unexpected: FIG4-Related Disorder Presenting with Progressive Supranuclear Palsy-Like Features.Movement disorders clinical practice · 2025Article
- Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.Journal of the peripheral nervous system : JPNS · 2025Article
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Authors and funding
13 authors.
Reza SadjadiFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0003-3829-6030
Vincent Picher-MartelFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0001-5620-6938
Jasper M MorrowFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.
Daniel ThedensFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.
Paul A DiCamilloFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.
Brett A McCrayFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0001-6581-9728
Davide PareysonFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0001-6854-765X
David N HerrmannFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0002-9030-9516
Mary M ReillyFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0003-0686-905X
Jun LiFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.
Diana CastroFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0001-9008-0208
Michael E ShyFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.ORCID 0000-0001-8460-6971
Inherited Neuropathy ConsortiumFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City.
Funding
Defining TRPV4-mediated cytoskeletal changes that trigger pathological blood-neural barrier disruptionR01NS131402 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Brett Andrew McCray · 2024 to 2026
$1.4MPathogenesis of TRPV4-related peripheral neuropathyK08NS102509 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MCCRAY, BRETT ANDREW · 2018 to 2022
$997kNINDS NIH HHS K08 NS102509NINDS NIH HHS R01 NS131402
Abstract
BACKGROUND AND
objectivesCharcot-Marie-Tooth disease type 4J (CMT4J) is caused by autosomal recessive variants in the
methodsThis cross-sectional study enrolled children and adults with genetically confirmed CMT4J, with 2 documented disease-causing variants in the
resultsWe recruited a total of 19 patients, including 14 pediatric patients (mean age 10.9 ± 3.9 years) and 5 adults (mean age 40.0 ± 13.9 years). The most frequent symptoms were gross motor delay and distal more than proximal muscle weakness, which were observed in 14 of 19 patients. The most common non-neuromuscular symptoms were cognitive and respiratory deficits, each seen in 8 of 19 patients. We denoted asymmetric weakness in 2 patients and nonuniform slowing of conduction velocities in 6 patients. Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), Pediatric Quality of Life Inventory, and Vineland Adaptive Behavior Scale scores were affected in most patients. We observed a significant positive correlation between neurofilament light chain levels and CMTPedS, but the study was underpowered to observe a correlation between CMTPedS and MRI fat fraction. DISCUSSION: We obtained baseline clinical and biomarker data in a broad cohort with CMT4J in pediatric and adult patients. Motor delay, muscle weakness, and respiratory and cognitive difficulties were the most common clinical manifestations of CMT4J. Many patients had nerve conduction studies with nonuniform slowing, and 2 had an asymmetric pattern of muscle weakness. We observed that the neurofilament light chain levels correlated with the CMTPedS in the pediatric population. This study showed feasibility of clinical outcomes including CMTPedS in assessment of disease severity in the pediatric patient population and provided baseline characteristics of exploratory biomarkers, neurofilament light chain levels, and muscle MRI fat fraction. The coronavirus disease 2019 pandemic affected some of the visits, resulting in a reduced number of some of the assessments.
Indexed as
Charcot-Marie-Tooth DiseaseAdolescentAdultChildChild, PreschoolCross-Sectional StudiesFemaleFlavoproteinsHumansMagnetic Resonance ImagingMaleMiddle AgedNeural ConductionNeurofilament ProteinsPhosphoric Monoester HydrolasesYoung AdultFIG4 protein, humanFlavoproteinsneurofilament protein LNeurofilament ProteinsPhosphoric Monoester Hydrolases
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