Neurol. praxi. 2011;12(2):142-144

Transthyretin-related hereditory amyloidosis and its neurological manifestations

MUDr.Jana Laštovičková
Neurologické oddělení, Oblastní nemocnice Kolín

Amyloidosis is a group of diseases characterized by deposition of amyloid in tissues. Hereditary amyloidosis with defect of transthyretin

is a disease with deposition of deficient protein transthyretin. Polyneuropathy, vitritis, kardiomyopathy, gastrointestinal disorder with

malabsorbtion, hepatomegaly are dominant in the clinical picture. A liver transplantation is the most effective therapy, because the

place of synthesis of deficient protein is removed.

I present the case of a woman suffering from this disease and describe the way, how her diagnosis has been proved.

Keywords: amyloid, hereditary amyloidosis with defect of transthyretin, clinical picture, diagnosis, therapy

Published: June 1, 2011  Show citation

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Laštovičková J. Transthyretin-related hereditory amyloidosis and its neurological manifestations. Neurol. praxi. 2011;12(2):142-144.
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