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 Lauria

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalNeurological Sciences
DOIs
Publication statusAccepted/In press - Jan 1 2019

Keywords

  • Cardiomyopathy
  • Neuropathy
  • Transthyretin
  • Val32Ala

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

Fingerprint Dive into the research topics of 'Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation'. Together they form a unique fingerprint.

  • Cite this