Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy

Alexander Lossos*, Dov Soffer, Bettina Steiner-Birmanns, Sharon Hassin-Baer, Menachem Sadeh, Michal Sagi, Eduard Linetski, Oded Abramsky, Zohar Argov, Hanna Rosenmann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The transthyretin Tyr77 variant of familial amyloid polyneuropathy (FAP) has been identified in a few North American and European patients, but the full spectrum of its clinical manifestations is still not known. We report a 3-generation family of Jewish-Yemenite origin with Tyr77 FAP presenting with atypical features. The affected individuals had sensorimotor and autonomic neuropathy and cardiomyopathy accompanied by prominent dysphagia, hearing loss and asymptomatic carpal tunnel syndrome. Brain MRI in the proband showed multifocal white matter lesions. These features extend the reported Tyr77 phenotype and support the modifying effect of additional factors on the disease expression.

Original languageEnglish
Pages (from-to)55-59
Number of pages5
JournalEuropean Neurology
Volume53
Issue number2
DOIs
StatePublished - 2005
Externally publishedYes

Keywords

  • Familial amyloid polyneuropathy
  • Transthyretin

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