|
KMID : 1044320220240020090
|
|
Annals of Clinical Neurophysiology
2022 Volume.24 No. 2 p.90 ~ p.92
|
|
|
A Korean family with AGel amyloidosis presenting with progressive facial and bulbar palsies
|
|
Kang Min-Sung
Shin Jin-Hong
Kim Dae-Seong
|
|
|
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
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|