Article
Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies.
Journal of the neurological sciences - 15 Jan 2007
Ikeda Masaki, Mizushima Kazuyuki, Fujita Yukio, Watanabe Mitsunori, Sasaki Atsushi, Makioka Kouki, Enoki Mariko, Nakamura Motonobu, Otani Tomohiro, Takatama Masamitsu, Okamoto Koichi
Abstract excerpt
Familial amyloid polyneuropathy (FAP: type IV), known as familial amyloidosis of the Finnish type (FAF), is very rare and reported only in a few countries. The gelsolin mutation G654A is most frequent causative gene in FAF family. The clinical phenotype of FAF possesses several neurological characteristics with multiple cranial nerve signs, in addition to a peculiar exanthema of "lichen amyloidosus" and pendulous...
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