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http://dx.doi.org/10.14253/acn.2022.24.2.90

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)
Publication Information
Annals of Clinical Neurophysiology / v.24, no.2, 2022 , pp. 90-92 More about this Journal
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.
Keywords
Progressive bulbar palsy; Gelsolin; Familial amyloidosis;
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