Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic

Background Hereditary amyloidosis represents approximately 4% of the total cases of amyloidoses. The most frequent familial type is caused by deposition of mutated transthyretin (TTR, prealbumin). So far it has been identified more than 100 mutations in the transthyretin gene and type of causal mutation is also characterized by a clinical picture of the disease. The most common variant is a neuropathic disease. Characteristic feature is an endemic occurrence with very low incidence in the Central Europe countries.