{
  "abstract": "Background Biallelic SH3TC2 variants lead to autosomal recessive Charcot‐Marie‐Tooth type 4C (CMT4C) which is typically demyelinating and associated with early-onset spinal deformities. Electrophysiology typically reveals a non-uniform conduction velocity (CV) slowing, a pattern traditionally linked to inflammatory neuropathies, potentially leading to diagnostic misinterpretation.Objective and Methods Clinical and neurophysiological data from 19 patients belonging to 16 unrelated families with confirmed CMT4C were retrospectively collected across six neuromuscular reference centres in Brazil.Results Among the 19 patients, consanguineous parentage was found in 11 patients. Most patients exhibited symptom onset before age 10, and difficulty walking was the most common presenting symptom. A high rate of initial misdiagnosis was noted, with six patients initially diagnosed as inflammatory neuropathy. Proximal muscle weakness since initial assessment, present in 13 patients, and non-uniform CV slowing, present in all patients, contributed to this diagnostic misinterpretation.Conclusion This is the largest Brazilian cohort of patients with CMT4C to date. Key findings include frequent non-uniform CV slowing, excessive temporal dispersion and a high rate of misdiagnosis, often as acquired demyelinating neuropathy. Clinicians should be aware of the distinctive neurophysiological pattern of SH3TC2-related neuropathy to avoid misdiagnosis, unnecessary ancillary tests and treatment.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil"
      ],
      "name": "Rodrigo Siqueira Soares Frezatti"
    },
    {
      "affiliations": [
        "Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil",
        "National Institute of Sciences and Technology Translational Medicine (INCT), Ribeirao Preto, São Paulo, Brazil"
      ],
      "name": "Pedro José Tomaselli"
    },
    {
      "affiliations": [
        "Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil"
      ],
      "name": "Manoella Guerra de Albuquerque Bueno"
    },
    {
      "affiliations": [
        "Department of Neurology, State University of Campinas, Campinas, Brazil",
        "Department of Neurology, Federal Fluminense University, Niterói, Rio de Janeiro, Brazil"
      ],
      "name": "Fabricio Diniz de Lima"
    },
    {
      "affiliations": [
        "Department of Neurology, Federal Fluminense University, Niterói, Rio de Janeiro, Brazil"
      ],
      "name": "Camila Castelo Branco Pupe"
    },
    {
      "affiliations": [
        "Department of Neurology, Federal University of Uberlândia, Uberlândia, Minas Gerais, Brazil"
      ],
      "name": "Diogo Fernandes dos Santos"
    },
    {
      "affiliations": [
        "Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil"
      ],
      "name": "Marcus Vinicius Vieira da Silva Gomes"
    },
    {
      "affiliations": [
        "Department of Neurology and Neurosurgery, Universidade Federal de Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil"
      ],
      "name": "Marcelo Maroco Cruzeiro"
    },
    {
      "affiliations": [
        "Department of Molecular Neuroscience, University College London, London, UK"
      ],
      "name": "Jana Vandrovcova"
    },
    {
      "affiliations": [
        "Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"
      ],
      "name": "Lindsay Wilson"
    },
    {
      "affiliations": [
        "Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"
      ],
      "name": "Christopher J Record"
    },
    {
      "affiliations": [
        "Department of Neurology, State University of Campinas, Campinas, Brazil"
      ],
      "name": "Marcondes Cavalcante França, Jr"
    },
    {
      "affiliations": [
        "Department of Neurology, Federal Fluminense University, Niterói, Rio de Janeiro, Brazil"
      ],
      "name": "Osvaldo Nascimento"
    },
    {
      "affiliations": [
        "Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"
      ],
      "name": "Michael G Hanna"
    },
    {
      "affiliations": [
        "Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"
      ],
      "name": "Mary M Reilly"
    },
    {
      "affiliations": [
        "Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil",
        "National Institute of Sciences and Technology Translational Medicine (INCT), Ribeirao Preto, São Paulo, Brazil"
      ],
      "name": "Wilson Marques"
    }
  ],
  "title": "Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies",
  "uid": "11728353-8a42-5025-baae-f773da3bf308"
}