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Journal of the Korean Neurological Association 2011;29(3): 220-223.
Transthyretin 유전자돌연변이를 보인 가족성 아밀로이드 다발신경병증
김영진, 이준화 박종근a 김성주a 정일억 임희진 황태숙b 오지영
건국대학교 의학전문대학원 신경과학교실, 가톨릭대학교 의과대학 의생명과학교실a, 건국대학교 의학전문대학원 병리학교실b
Familial Amyloidotic Polyneuropathy with Transthyretin Gene Mutation
Young Jin Kim
Department of Neurology, Konkuk University School of Medicine, Seoul, KoreaDepartment of Biomedical Sciencea, The Catholic University of Korea, Seoul, KoreaDepartment of Pathologyb, Konkuk University School of Medicine, Seoul, Korea
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. KeyWords:Amyloidosis, Familial amyloidotic polyneuropathy, Transthyretin