Letter to the editor: Comment on "Involvement of cranial nerves in ATTR Ile127Val amyloidosis" by Silva Batista JAD et al. (Eur J Med Genet. 2022 Jul;65(7):104524) and report of 3 new patients.

Abstract excerpt

Cranial nerve involvement in hereditary transthyretin amyloidosis (ATTRv) remains an underrecognized manifestation, particularly in carriers of atypical variants. Silva Batista et al. (2022) expanded the phenotypic spectrum of the p.Ile127Val mutation by reporting cranial neuropathies in approximately 21% of p.Ile127Val individuals. Motivated by these findings, we conducted a retrospectively analysis of our...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aged
• Share to Amyloid Neuropathies, Familial