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KMID : 0860920160180010028
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2016 Volume.18 No. 1 p.28 ~ p.31
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Non-Val30Met TTR Type Familial Amyloid Polyneuropathy with Asp38Ala Mutation
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Park Chun-Ung
Park Eun-Sook
Choi Ja-Young
Cho Yoo-Na
Rha Dong-Wook
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Abstract
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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.
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KEYWORD
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amyloid neuropathies, transthyretin-related amyloid fibril protein
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