The Clinical, Pathological And Molecular Studies Of Familial Amyloid Polyneuropathy In China

Since familial amyloid polyneuropathy (FAP) was first described by Andrade in northern Portugal in 1952, a considerable number of FAP families have been found around the world, and more common in Europe and Japan. Great deal of research work concerning the disease have been done in clinical, pathology and genetics, and to date, we have known that FAP is autosomal dominant inheritance disease, characterized by a progressive polyneuropathy with autonomic failure, and the amyloid fibril protein in this disorder is composed of a variant of transthyretin(TTR) with a single substitution of a methionine residue for valine at position 30, resulted from the point mutation in TTR gene. For FAP is broadly accepted as a world disease at present, the lack of clinical FAP report in our so large population country may attribute to the clinical neglence in this disease. In this paper, we first report a FAP family with large pedigree in mainland China, 67 family members have been investigated and 16 cases with symptoms was diagnosed as FAP patients, the clinical features of this FAP family were that the onset age was between 30-50 years old in man and slight...