Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

Abstract

More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy. This rare disease causes severe motor and sensory disability, dysautonomia, and in some patients also cardiomyopathy. The diagnosis can be challenging mainly in sporadic adult patients showing clinical, laboratory, and neurophysiological findings overlapping other forms of chronic neuropathy. We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.

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References

  1. 1.

    Pica EC, Pramono ZA, Verma KK, San LP, Chee YW (2005) A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy. Muscle Nerve 32(2):223–225. https://doi.org/10.1002/mus.20331

    Article  CAS  PubMed  Google Scholar 

  2. 2.

    Kaplan B, Shinar Y, Avisar C, Livneh A (2007) Transthyretin amyloidosis in a patient of Iranian-Jewish extraction: a second Israeli-Jewish case. Clin Chem Lab Med 45(5):625–628. https://doi.org/10.1515/CCLM.2007.129

    Article  CAS  PubMed  Google Scholar 

  3. 3.

    Klein CJ, Vrana JA, Theis JD, Dyck PJ, Dyck PJ, Spinner RJ, Mauermann ML, Bergen HR 3rd, Zeldenrust SR, Dogan A (2011) Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. Arch Neurol 68(2):195–199. https://doi.org/10.1001/archneurol.2010.261

    Article  PubMed  Google Scholar 

  4. 4.

    Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S, Merlini G, Obici L, Briani C, Fabrizi GM (2011) Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 16(2):119–129. https://doi.org/10.1111/j.1529-8027.2011.00331.x

    Article  PubMed  Google Scholar 

  5. 5.

    Allen JA, Ney J, Lewis RA (2018) Electrodiagnostic errors contribute to chronic inflammatory demyelinating polyneuropathy misdiagnosis. Muscle Nerve 57(4):542–549. https://doi.org/10.1002/mus.25997

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Giuseppe Lauria.

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Cazzato, D., Dalla Bella, E., Saveri, P. et al. Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation. Neurol Sci 40, 1267–1269 (2019). https://doi.org/10.1007/s10072-019-3716-z

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Keywords

  • Transthyretin
  • Neuropathy
  • Cardiomyopathy
  • Val32Ala