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

Vlastimil Scudla,Helena Hulkova,Pavla Latalova,Patrik Flodr,Tomas Pika,Vladimir Mejzlik

doi:10.1186/1750-1172-10-s1-p24

Abstract

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.

Highlights

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)
It has been identified more than 100 mutations in the transthyretin gene and type of causal mutation is characterized by a clinical picture of the disease

Summary

Open Access

Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic. Tomas Pika1*, Pavla Latalova, Helena Hulkova, Patrik Flodr, Vladimir Mejzlik, Vlastimil Scudla. From First European Congress on Hereditary ATTR amyloidosis Paris, France. From First European Congress on Hereditary ATTR amyloidosis Paris, France. 2-3 November 2015

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