Familial Amyloidotic Polyneuropathy With Transthyretin Gene Mutation
Journal of the Korean Neurological Association
;
: 220-223, 2011.
Artigo
em Coreano
| WPRIM
| ID: wpr-145205
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polineuropatias
/
Portugal
/
Suécia
/
Pré-Albumina
/
Amiloidose Familiar
/
Irmãos
/
Amiloidose
/
Japão
/
Coreia (Geográfico)
Limite:
Humanos
País/Região como assunto:
Ásia
/
Europa
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2011
Tipo de documento:
Artigo
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