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KMID : 0359720110290030220
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Journal of the Korean Neurological Association
2011 Volume.29 No. 3 p.220 ~ p.223
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Familial Amyloidotic Polyneuropathy with Transthyretin Gene Mutation
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Kim Young-Jin
Lee Joon-Hwa
Park Jong-keun
Jung Il-Eok
Im Hee-Jin
Hwang Tea-sook
Oh Jee-Young
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Abstract
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Familial amyloidotic polyneuropathy (FAP) is a rare hereditary amyloidosis that is characterized by slowly progressive peripheral polyneuropathy with other systemic involvement. More than 100 amyloidogenic transthyretin gene mutations have been reported, mainly in endemic areas of Portugal, Japan, and Sweden. We describe two brothers who exhibited progressive painful sensorimotor polyneuropathy with autonomic dysfunction. Gene analysis revealed a heterozygous Asp38Ala substitution in the transthyretin gene; this represents the first reported case of FAP in Korea.
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KEYWORD
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Amyloidosis, Familial amyloidotic polyneuropathy, Transthyretin
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