伴有淀粉样前体蛋白转甲状腺素蛋白Ser50Ile和Tyr114Cys的肌肉淀粉样血管病
Muscular amyloid angiopathy with amyloidgenic transthyretin Ser50Ile and Tyr114Cys.
作者信息
Yamashita Taro, Ando Yukio, Katsuragi Shoichi, Nakamura Masaaki, Obayashi Konen, Haraoka Katsuki, Ueda Mitsuharu, Xuguo Sun, Okamoto Sadahisa, Uchino Makoto
机构信息
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
出版信息
Muscle Nerve. 2005 Jan;31(1):41-5. doi: 10.1002/mus.20185.
Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy. To clarify the cause of proximally dominant muscular atrophy in patients with FAP transthyretin Ser50Ile and Tyr114Cys, we investigated the distinctive features of muscle specimens of patients with FAP, 3 of who had Val30Met, 2 Ser50Ile, and 2 Tyr114Cys transthyretin. All specimens showed transthyretin amyloid around blood vessels and perimysium, and neurogenic denervation patterns. The amount of amyloid around the vessels was much greater in patients with FAP Ser50Ile and Tyr114Cys than in Val30Met patients. Muscular amyloid angiopathy may contribute to motor nerve injury that, in turn, may lead to amyotropic changes in patients with FAP Ser50Ile and Tyr114Cys.
在家族性淀粉样多神经病（FAP）患者中，携带转甲状腺素蛋白Val30Met的患者主要表现为以远端为主的肌无力和萎缩，而一些FAP患者，包括携带转甲状腺素蛋白Ser50Ile和Tyr114Cys的患者，则表现为以近端为主的肌无力和萎缩，类似肌病。为了阐明携带转甲状腺素蛋白Ser50Ile和Tyr114Cys的FAP患者近端为主的肌肉萎缩的原因，我们研究了FAP患者肌肉标本的独特特征，其中3例携带Val30Met，2例携带Ser50Ile，2例携带Tyr114Cys转甲状腺素蛋白。所有标本均显示血管和肌束膜周围有转甲状腺素蛋白淀粉样物质，以及神经源性失神经模式。携带FAP Ser50Ile和Tyr114Cys的患者血管周围的淀粉样物质数量比携带Val30Met的患者多得多。肌肉淀粉样血管病可能导致运动神经损伤，进而可能导致携带FAP Ser50Ile和Tyr114Cys的患者出现肌萎缩性改变。
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