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Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.
Frezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro José; Figueiredo, Fernanda Barbosa; Zuchner, Stephan; Reilly, Mary M; Marques, Wilson.
Afiliación
  • Frezatti RSS; Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
  • Tomaselli PJ; Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
  • Figueiredo FB; Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
  • Zuchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, USA.
  • Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Marques W; Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
J Peripher Nerv Syst ; 27(4): 316-319, 2022 12.
Article en En | MEDLINE | ID: mdl-36222432
The distal hereditary motor neuropathies (dHMN) encompass a group of peripheral nervous system disorders characterized by progressive distal predominant weakness and wasting, usually in a length-dependent pattern. The classical neurophysiological pattern is a motor axonal neuropathy with chronic distal denervation/reinnervation on needle examination. Conduction block (CB) and temporal dispersion (TD) are electrophysiological features classically associated with acquired demyelinating neuropathies. Although they have rarely been reported in hereditary neuropathies, to date they have not been described in dHMN. We report a sporadic case of a patient with neurophysiological criteria consistent with multifocal motor neuropathy with CB (MMN) refractory to immunomodulation. WES revealed a homozygous nonsense pathogenic variant in sigma nonopioid intracellular receptor-1 gene (SIGMAR1). SIGMAR1-related disorders have been reported with distinctive features suggesting it is not a typical length-dependent neuropathy. Nevertheless, CB and TD are unexpected and as far as we have known not been described previously in such patients. This case expands the neurophysiological spectrum of this disease and alerts clinicians to this acquired demyelinating motor neuropathy mimic.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico Límite: Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico Límite: Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos