Ikeda Masaki, Mizushima Kazuyuki, Fujita Yukio, Watanabe Mitsunori, Sasaki Atsushi, Makioka Kouki, Enoki Mariko, Nakamura Motonobu, Otani Tomohiro, Takatama Masamitsu, Okamoto Koichi
Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511, Japan.
J Neurol Sci. 2007 Jan 15;252(1):4-8. doi: 10.1016/j.jns.2006.09.022. Epub 2006 Nov 13.
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 skin "cutis laxa", and the carpal tunnel syndrome. 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.
家族性淀粉样多神经病（FAP：IV型），即芬兰型家族性淀粉样变性（FAF），非常罕见，仅在少数国家有报道。凝溶胶蛋白突变G654A是FAF家族中最常见的致病基因。FAF的临床表型除了具有“苔藓样淀粉样变”和皮肤松弛下垂的特殊皮疹以及腕管综合征外，还具有多种神经学特征，伴有多个颅神经体征。我们报告了一个新的日本FAF家族，其表现为双侧面部肌肉和舌肌萎缩及肌束震颤。我们家族中的患者出现了“苔藓样淀粉样变”和“皮肤松弛”的皮肤改变。在这个FAF家族中，苔藓样淀粉样变每年夏季在阳光照射和高温下出现。我们家族中的两名患者除上述实验室检查结果外，具有FAF的常见临床特征。包括之前的病例和我们的家族在内，这种临床表型与FAF家族成员中的凝溶胶蛋白基因突变（G654A）相似。
