Article
Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.
The American journal of case reports - 30 Mar 2018
Oregel Karlos Z, Shouse Geoffrey P, Oster Cyrus, Martinez Freddy, Wang Jun, Rosenzweig Michael, Deisch Jeremy K, Chen Chien-Shing, Nagaraj Gayathri
Abstract excerpt
BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment...
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