Julien J
Service de Neurologie, Hôpital du Haut-Levêque, CHU Bordeaux.
Rev Neurol (Paris). 1993;149(10):517-23.
Recent advances in molecular biology have given improved knowledge of familial amyloidotic polyneuropathies (FAP). FAP, originally described in Portuguese patients have been observed in many countries. These neuropathies are characterized by a sensory motor deficit beginning in the lower limbs and associated with autonomic nervous system involvement and tropic lesions of the feet in a few patients. FAP are associated with alterations or the transthyretin (TTR) gene located on chromosome 18, resulting in variants of the molecule. In a few cases a carpal tunnel syndrome is the presenting feature with a secondary sensory motor neuropathy. Sensory motor neuropathy is associated with renal failure in FAP where the amyloid deposits are composed of a variant of the apolipoprotein A1 molecule. the gene for apolipoprotein A1 is on chromosome 11. In FAP, originally described in Finland, clinical features include lattice corneal dystrophy and cranial neuropathy. The amyloid deposits contain a variant of plasma gelsolin, the gene of which is located on chromosome 9. The course of these FAPs is serious, and patients are bedridden after 10 years. At present, there is no specific therapy; however, liver transplantation could be a possible treatment. Molecular biology identifying genetic mutations allows the detection of gene carriers.
分子生物学的最新进展使人们对家族性淀粉样多神经病（FAP）有了更深入的了解。FAP最初是在葡萄牙患者中发现的，现在在许多国家都有观察到。这些神经病的特征是下肢开始出现感觉运动障碍，并伴有自主神经系统受累，少数患者还伴有足部的营养性病变。FAP与位于18号染色体上的转甲状腺素蛋白（TTR）基因改变有关，导致该分子出现变异。在少数情况下，腕管综合征是首发症状，继发感觉运动神经病。在FAP中，感觉运动神经病与肾衰竭有关，其中淀粉样沉积物由载脂蛋白A1分子的一种变体组成。载脂蛋白A1的基因位于11号染色体上。在最初在芬兰发现的FAP中，临床特征包括格子状角膜营养不良和颅神经病变。淀粉样沉积物含有血浆凝溶胶蛋白的一种变体，其基因位于9号染色体上。这些FAP的病程严重，患者在10年后会卧床不起。目前尚无特效治疗方法；然而，肝移植可能是一种治疗选择。通过分子生物学鉴定基因突变可以检测基因携带者。
