Ann Clin Neurophysiol.  2022;24(2):90-92. 10.14253/acn.2022.24.2.90.

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

• Kang M
• Shin JH
• Kim DS

• KMID: 2535725
• DOI: http://doi.org/10.14253/acn.2022.24.2.90

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.

Keyword

Progressive bulbar palsy; Gelsolin; Familial amyloidosis

Figure

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  Fig. 1. (A) Family pedigree of the present case. The proband (III:4) is indicated by the arrow. (B) Sanger sequencing revealed a heterozygous missense mutation at position 640 (c.640G>T, p. Asp214Tyr) in affected members (III:4 and III:7), with normal findings in an unaffected member (III:5).

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  Fig. 2. Photograph of the patient showing marked facial diplegia (A), an atrophic and furrowed tongue (B), and lax skin (cutis laxa) on the cheek (C).

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