증례보고: Asp38Ala 돌연변이로 인한 비Val30Met TTR형의 가족성 아밀로이드 다발성신경병증

Abstract

There are three precursor proteins of amyloid inducing familial amyloid polyneuropathy (FAP): transthyretin (TTR), Apolipoprotein A-1, and Gelsolin. Abnormal TTR expression is most frequently discovered in FAP and the genotypes are correlated with clinical features. Since the substitution of methionine for valine at position 30 is most common gene mutation, TTR type FAP is divided into Val30Met type FAP and non-Val30Met type FAP. Asp38Ala mutation found in non-Val30Met type FAP usually accompanied the autonomic symptoms and only reported in male persons in Korea. We reported the clinical characteristics and disease progression of first Korean female person with Asp38Ala mutation who didn’t show autonomic symptoms.