Hsieh Sung-Tsang
Department of Neurology, National Taiwan University College of Medicine, Taiwan.
Acta Neurol Taiwan. 2011 Jun;20(2):155-60.
Familial amyloid polyneuropathy (FAP) is a major etiology in differential diagnosis of symmetric axonalform polyneuropathy, but had been considered an unusual disease in Taiwan. We have reviewed the pathology of nerve biopsies and sequenced the entire 4 exons of transthyretin (TTR), the most common genetic mutation of FAP. Our studies indicated that the mutation of TTR at Ala97Ser (TTR Ala97Ser) was a new mutation only reported in ethnic Taiwanese, and this mutation accounted for the most frequent etiology of adult-onset pan-modality (involving motor, sensory, and autonomic components of peripheral nerves) polyneuropathy with the pathology of axonal degeneration type. Over the past 10 years, there have been advancements in the management of FAP due to TTR mutations: (1) symptomatic treatments of dyaautonomia, especially orthostatic hypotension, and (2) therapies with liver transplantation and small molecules to reduce or stabilize TTR.
家族性淀粉样多神经病（FAP）是对称性轴索性多神经病鉴别诊断中的主要病因，但在台湾曾被认为是一种罕见疾病。我们回顾了神经活检的病理情况，并对转甲状腺素蛋白（TTR）的全部4个外显子进行了测序，TTR是FAP最常见的基因突变。我们的研究表明，TTR基因Ala97Ser位点的突变（TTR Ala97Ser）是仅在台湾人群中报道的一种新突变，该突变是成人起病的全模式（累及周围神经的运动、感觉和自主神经成分）多神经病伴轴索性变性型病理改变的最常见病因。在过去10年里，由于TTR基因突变导致的FAP治疗取得了进展：（1）对自主神经功能障碍进行对症治疗，尤其是体位性低血压；（2）采用肝移植和小分子药物治疗以减少或稳定TTR。
