J Korean Neurol Assoc.
2011 Aug;29(3):220-223.
Familial Amyloidotic Polyneuropathy With Transthyretin Gene Mutation
- Affiliations
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- 1Department of Neurology, Konkuk University School of Medicine, Seoul, Korea. serein@kuh.ac.kr
- 2Department of Biomedical Science, The Catholic University of Korea, Seoul, Korea.
- 3Department of Pathology, Konkuk University School of Medicine, Seoul, Korea.
Abstract
- 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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