Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1916526 | Journal of the Neurological Sciences | 2007 | 5 Pages |
Abstract
We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue. The patients in our family presented with skin changes as “lichen amyloidosus” and “cutis laxa”. In this FAF family, lichen amyloidosus appeared under sunlight and high temperatures in the summer season every year. Two patients in our family presented with common clinical features of FAF, except for the above laboratory results. Including previous cases and our family, this clinical phenotype is similar to the gelsolin gene mutation (G654A) in FAF family members.
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Authors
Masaki Ikeda, Kazuyuki Mizushima, Yukio Fujita, Mitsunori Watanabe, Atsushi Sasaki, Kouki Makioka, Mariko Enoki, Motonobu Nakamura, Tomohiro Otani, Masamitsu Takatama, Koichi Okamoto,