A Korean family with AGel amyloidosis presenting with progressive facial and bulbar palsies

Abstract

AGel amyloidosis is an autosomal dominantly inherited disease caused by a <i>GSN</i> mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in <i>GSN</i>. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.