Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies
Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies
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DOI：
10.1016/j.jns.2006.09.022
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发表时间：
2007-01-15
影响因子：
4.4
通讯作者：
Okamoto, Koichi
中科院分区：
文献类型：
--
作者：
Ikeda, Masaki;Mizushima, Kazuyuki;Okamoto, Koichi
家族性淀粉样蛋白多神经病变（FAR型TV），又称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的临床表型具有多种神经学特征，包括多种颅神经征象，此外还有一种特殊的“腱鞘地衣”和下垂的皮肤“皮肤松弛”，以及腕管综合征。我们报告一个新的日本FAT家族表现双侧萎缩和面部肌肉和舌头的束状。我们家族患者的皮肤变化表现为“淀粉样地衣”和“皮肤松弛”。在这个FAT家族中，淀粉样地衣每年夏季都在阳光和高温下出现。我们家族中有两例患者除上述实验室结果外，均表现出FAF的共同临床特征。包括既往病例和本家族在内，该临床表型与FAT家族成员的gelsolin基因突变（G654A）相似。(c) 2006 Elsevier B.V.版权所有
Familial amyloid polyneuropathy (FAR type TV), 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 arnyloidosus" and pendulous skin "cutis laxa", and the carpal tunnel syndrome.We report a new Japanese FAT 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 FAT 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 FAT family members. (c) 2006 Elsevier B.V. All rights reserved.