Adams David, Cauquil Cécile, Labeyrie Céline
aService de Neurologie, CHU Bicêtre, Assistance Publique - Hôpitaux de Paris bNational Reference Center for Familial Amyloid Poyneuropathy, Le Kremlin Bicêtre cINSERM U1195 dUniversité Paris Sud, Orsay eFILNEMUS, Marseille, France.
Curr Opin Neurol. 2017 Oct;30(5):481-489. doi: 10.1097/WCO.0000000000000476.
Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatment's research.
Access to TTR gene sequencing permit diagnosis and first reports of the disease in nonendemic countries (EU countries, United States, China, India). Most studies showed a more severe natural history of the neuropathy in nonendemic countries. First European consensus for management has been established. New long-term results allow selection of best candidates for liver transplantation based on phenotype and cardiac involvement. Multimodal evaluation of small fiber neuropathy and resonance magnetic neurography are under development. New results are available for long-term effect of tafamidis in late-onset patients. TTR gene silencing drugs are subject to phase 3 clinical trials.
New methods for the evaluation of the disease are being developed. The TTR gene silencing strategy will be available by the end of 2017.
由于转甲状腺素蛋白基因的点突变，转甲状腺素蛋白家族性淀粉样多神经病是成年期最致残的遗传性多神经病。本综述更新了我们关于该疾病自然史、表型、大小纤维受累的诊断工具、有症状和无症状随访的专家共识以及治疗研究方面的知识。
通过转甲状腺素蛋白（TTR）基因测序能够在非流行国家（欧盟国家、美国、中国、印度）诊断并首次报告该疾病。大多数研究表明在非流行国家神经病的自然史更为严重。已建立首个欧洲管理共识。新的长期结果使得能够根据表型和心脏受累情况选择肝移植的最佳候选者。小纤维神经病的多模式评估和磁共振神经成像正在研发中。关于tafamidis对晚发型患者的长期疗效有了新结果。TTR基因沉默药物正在进行3期临床试验。
正在研发评估该疾病的新方法。TTR基因沉默策略将于2017年底可用。
