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 Ser50...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.展开更多
文摘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.
