转甲状腺素蛋白Ser50Ile和Tyr114Cys型淀粉样变性患者的肌肉淀粉样血管病

• 作 者: Yamashita T.agi S. 江山
• 机 构: Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1- 1- 1
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2005年05期
• 关键词: 淀粉样血管病 转甲状腺素蛋白 淀粉样变性 肌肉 肌病 近端肌无力 远端肌 肌束膜 肌萎缩 神经源性

Among patients with familial amyloid polyneuropathy (FAP), those with transth yretin Val30Met mainly show distally predominant weakness and atrophy, whereas s ome FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, sho w muscle weakness and atrophy that is dominant proximally, simulating myopathy. To clarify the cause of proximally dominant muscular atrophy in patients with FA P transthyretin Ser50Ile and Tyr114Cys, we investigated the distinctive features of muscle specimens of patients with FAP, 3 of who had Val30Met, 2 Ser50Ile, an d 2 Tyr114Cys transthyretin. All specimens showed transthyretin amyloid around b lood vessels and perimysium, and neurogenic denervation patterns. The amount of amyloid around the vessels was much greater in patients with FAP Ser50Ile and Ty r114Cys than in Val30Met patients. Muscular amyloid angiopathy may contribute to motor nerve injury that, in turn, may lead to amyotropic changes in patients wi th FAP Ser50Ile and Tyr114Cys.

Among patients with familial amyloid polyneuropathy (FAP), those with transth yretin Val30Met mainly show distally predominant weakness and atrophy, as s ome FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, sho w muscle weakness and atrophy that is dominant proximally, simulating myopathy To clarify the cause of proximally dominant muscular atrophy in patients with FA P transthyretin Ser50Ile and Tyr114Cys, we investigated the distinctive features of muscle specimens of patients with FAP, 3 of who had Val30Met, 2 Ser50Ile, an d2 Tyr114Cys transthyretin. showed transthyretin amyloid around b lood vessels and perimysium, and neurogenic denervation patterns. The amount of amyloid around the vessels was much greater in patients with FAP Ser50Ile and Ty r114Cys than in Val30Met patients. Muscular amyloid angiopathy may contribute to motor nerve injury that, in turn, may lead to amyotropic changes in patients wi th FAP Ser50Ile and Tyr114Cys.