Familial Amyloidotic Polyneuropathy With Transthyretin Gene Mutation.
- Author:
Young Jin KIM
1
;
Joonhwa LEE
;
Jongkeun PARK
;
Sungjoo KIM
;
Ileok JUNG
;
Hee Jin LIM
;
Tae Sook HWANG
;
Jeeyoung OH
Author Information
1. Department of Neurology, Konkuk University School of Medicine, Seoul, Korea. serein@kuh.ac.kr
- Publication Type:Case Report
- Keywords:
Amyloidosis;
Familial amyloidotic polyneuropathy;
Transthyretin
- MeSH:
Amyloidosis;
Amyloidosis, Familial;
Humans;
Japan;
Korea;
Polyneuropathies;
Portugal;
Prealbumin;
Siblings;
Sweden
- From:Journal of the Korean Neurological Association
2011;29(3):220-223
- CountryRepublic of Korea
- Language:Korean
-
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.
