Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies
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
- Rodrigo Siqueira Soares Frezatti (ORCID: https://orcid.org/0000-0003-4325-3414)
- Lindsay Wilson (ORCID: https://orcid.org/0000-0003-4113-2328)
- Michael G. Hanna (ORCID: https://orcid.org/0000-0003-0825-4075)
- Marcondes C. França (ORCID: https://orcid.org/0000-0003-0898-2419)
- Christopher J. Record (ORCID: https://orcid.org/0000-0002-9802-2683)
- Mary M. Reilly (ORCID: https://orcid.org/0000-0003-0686-905X)
- Fabrício Diniz de Lima (ORCID: https://orcid.org/0000-0002-9946-6032)
- Marcel Vieira Gomes (ORCID: https://orcid.org/0000-0003-1292-0018)
- Manoella Guerra de Albuquerque Bueno
- Osvaldo J. M. Nascimento (ORCID: https://orcid.org/0000-0003-3516-485X)
- Diogo Fernandes dos Santos (ORCID: https://orcid.org/0000-0002-3807-9987)
- Wilson Marques (ORCID: https://orcid.org/0000-0002-4589-2749)
- Marcelo Maroco Cruzeiro (ORCID: https://orcid.org/0000-0001-6898-2790)
- Camila Pupe (ORCID: https://orcid.org/0000-0001-9590-435X)
- Pedro José Tomaselli (ORCID: https://orcid.org/0000-0002-1485-3771)
- Jana Vandrovcova
Institutions
- Universidade Federal de Juiz de Fora (BR)
- Universidade de Ribeirão Preto (BR)
- Universidade Federal Fluminense (BR)
- Universidade de São Paulo (BR)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- Hospital Universitário - Universidade Federal de Juiz de Fora (BR)
- National Hospital for Neurology and Neurosurgery (GB)
- Clinics Hospital of Ribeirão Preto (BR)
- University College London (GB)
- Universidade Federal de Uberlândia (BR)
Publication Details
- Journal
- Journal of Neurology Neurosurgery & Psychiatry
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1136/jnnp-2025-336458
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00