Case Report : Non-Val30Met TTR Type Familial Amyloid Polyneuropathy With Asp38Ala Mutation

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