Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Amyloid. 2012 Jun;19 Suppl 1:53-4. doi: 10.3109/13506129.2012.670813. Epub 2012 Apr 2.
Marked differences in phenotype in familial amyloid polyneuropathy (FAP) populations have been noted between but also within FAP populations. Initially, it was believed that patients with FAP, caused by the TTR V30M mutation, shared the same founder. However, recent studies have clearly shown that the V30M mutation in Sweden occurred spontaneously later in time than that in Portugal. The Swedish FAP-population's phenotype differs between various areas within northern Sweden. Thus the age at onset is in average 20 years earlier in Skellefteå than in Piteå areas, a distance of only 60 km. Age at onset appears also to have an impact on complications of the disease. Late-onset cases often develop a cardiomyopathy, especially male patients. Mitochondrial haplotype distribution has been noted to differ between early- and late- onset patients in the Swedish population. Mitochondrial function is one possible factor contributing to the differences seen both between and within populations.
家族性淀粉样多发性神经病（FAP）人群中的表型存在明显差异，不仅在不同的 FAP 人群之间存在差异，在同一人群中也存在差异。最初，人们认为由 TTR V30M 突变引起的 FAP 患者具有相同的起源。然而，最近的研究清楚地表明，瑞典的 V30M 突变发生的时间晚于葡萄牙。瑞典 FAP 人群的表型在瑞典北部的不同地区之间存在差异。因此，在斯凯莱夫特和皮特奥之间，发病年龄平均早 20 年，两地相距仅 60 公里。发病年龄似乎也对疾病的并发症有影响。发病较晚的病例常发生心肌病，尤其是男性患者。在瑞典人群中，早发和晚发患者的线粒体单倍型分布存在差异。线粒体功能是导致人群之间和人群内部差异的一个可能因素。
