Annals of Clinical Neurophysiology

  • 제24권2호
  • /
  • Pages.90-92
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  • 2022
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  • 2508-691X(pISSN)
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  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
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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)
  • 투고 : 2022.07.18
  • 심사 : 2022.08.17
  • 발행 : 2022.10.30
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초록

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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과제정보

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

참고문헌

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