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

  • Daniele Cazzato
  • Eleonora Dalla Bella
  • Paola Saveri
  • Franco Taroni
  • Gianluca Marucci
  • Giuseppe LauriaEmail author
Brief Communication
  • 53 Downloads

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.

Keywords

Transthyretin Neuropathy Cardiomyopathy Val32Ala 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Neuroalgology Unit, Department of Clinical NeurosciencesFondazione IRCCS Istituto Neurologico “Carlo Besta”MilanItaly
  2. 2.Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical NeurosciencesFondazione IRCCS Istituto Neurologico “Carlo Besta”MilanItaly
  3. 3.Genetics of Neurodegenerative and Metabolic Disease Unit, Department of Diagnostics and TechnologyFondazione IRCCS Istituto Neurologico “Carlo Besta”MilanItaly
  4. 4.Neuropathology Unit, Department of Diagnostics and TechnologyFondazione IRCCS Istituto Neurologico “Carlo Besta”MilanItaly
  5. 5.Department of Biomedical and Clinical Sciences “Luigi Sacco”University of MilanMilanItaly

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