Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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A Korean family with AGel amyloidosis presenting with progressive facial and bulbar palsies

  • Kang, Minsung (Department of Neurology, Kyungpook National University Chilgok Hospital) ;
  • Shin, Jin-Hong (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University Yangsan Hospital)
  • Received : 2022.07.18
  • Accepted : 2022.08.17
  • Published : 2022.10.30
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Abstract

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN 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 GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

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Acknowledgement

This study was supported by a research grant in 2021 from Pusan National University Yangsan Hospital.

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