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Muscular amyloid angiopathy with amyloidgenic transthyretin Ser50Ile and Tyr114Cys
Author(s) -
Yamashita Taro,
Ando Yukio,
Katsuragi Shoichi,
Nakamura Masaaki,
Obayashi Konen,
Haraoka Katsuki,
Ueda Mitsuharu,
Xuguo Sun,
Okamoto Sadahisa,
Uchino Makoto
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20185
Subject(s) - transthyretin , cerebral amyloid angiopathy , amyloidosis , medicine , angiopathy , amyloid (mycology) , neuroscience , pathology , endocrinology , psychology , disease , dementia , diabetes mellitus
Abstract 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. Muscle Nerve, 2005