Skin denervation as an early diagnostic marker of hereditary amyloidogenic transthyretin amyloidosis

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  • Masuda Teruaki
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University
  • Ueda Mitsuharu
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University
  • Obayashi Konen
    Department of Morphological and Physiological Sciences, Graduate School of Health Sciences, Kumamoto University
  • Ando Yukio
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University Department of Amyloidosis Research, Nagasaki International University

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  • 遺伝性トランスサイレチンアミロイドーシスの早期診断に有用な皮神経脱落の解析

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Abstract

<p>Transthyretin-type familial amyloid polyneuropathy (ATTR-FAP) is an autosomal dominant disorder caused by mutations in TTR, characterized by systemic accumulation of amyloid fibrils in various organs. ATTR-FAP patients usually show small fiber neuropathy (SFN). Novel disease-modifying therapies are most effective when started early in the disease process. Therefore, early diagnosis is becoming more important. Moreover, accurate and reliable methods for monitoring efficacy of these new treatments are also needed. In our study, we found early skin denervation in ATTR-FAP, even in the presymptomatic stage of the disease. Skin denervation may be a useful marker for early diagnosis and may aid quantitative evaluation for evaluating SFN in ATTR-FAP.</p>

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