ArticleAnnals of neurology2018
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.Clinical genetics · 2026Review
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Editorial: Reviews in non-neuronal cells 2024 & 2025.Frontiers in cellular neuroscience · 2026Article
- Homeostatic Influence of Fig4 Outside of the Fab1-Vac14-Fig4 Complex in Saccharomyces cerevisiae.Molecular microbiology · 2025Article
- FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.Genes · 2024Review
- Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.Neurology · 2024Article
- Clinical and genetic features of patients suffering from CMT4J.Journal of neurology · 2024Article
- Case report and literature review: Novel compound heterozygousFrontiers in pediatrics · 2022Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.Brain sciences · 2021Review
- Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J.The Journal of clinical investigation · 2021Article
- AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.The Journal of clinical investigation · 2021Article
- Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.Journal of neurology · 2021Article
- CIDP mimics: a case series.BMC neurology · 2021Article
- Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.Annals of clinical and translational neurology · 2021Article
- Reducing monocarboxylate transporter MCT1 worsens experimental diabetic peripheral neuropathy.Experimental neurology · 2020Article
- Recent Advances inInternational journal of molecular sciences · 2020Review
- Demyelination in hereditary sensory neuropathy type-1C.Annals of clinical and translational neurology · 2020Article
- Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.Molecular genetics & genomic medicine · 2020Article
- Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.Molecular neurobiology · 2019Article
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
Abstract
objectiveCharcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J.
methodsOver the past 9 years, we have enrolled and studied a cohort of 12 CMT4J patients, including 6 novel FIG4 mutations. We evaluated these patients and related mouse models using morphological, electrophysiological, and biochemical approaches.
resultsWe found sensory motor demyelinating polyneuropathy consistently in all patients. This underlying myelin pathology was associated with nonuniform slowing of conduction velocities, conduction block, and temporal dispersion on nerve conduction studies, which resemble those features in acquired demyelinating peripheral nerve diseases. Segmental demyelination was also confirmed in mice without Fig4 (Fig4
interpretationMyelin change in CMT4J recapitulates the features of acquired demyelinating neuropathies. This pathology is not Schwann cell autonomous. Instead, it relates to systemic processes involving interactions of multiple cell types and abnormally elevated intracellular Ca
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