THE CASE OF TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY WITH LATE DEBUT; CLINICAL CASE

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Abstract

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, disabling, fatal neurodegenerative disease, which is the most common type of hereditary amyloidosis with an autosomal dominant type of inheritance. The cause of TTR-FAP is a mutation in the transthyretin’s gene TTR. Currently, more than 120 mutations of this gene has been identified, the most common is Val30Met. There are early (up to 50 years) and and late (over 50 years) debuts of the disease. Late debut is more common in non-endemic areas, such patients often do not have a family history TTR-FAP. The case of TTR-FAP with a late, at 75 years old, debut with the characteristic features of this form of the disease is presented.

About the authors

Elena A. Kovrazhkina

Federal center of brain and neurotechnologies

Email: elekov2@yandex.ru
канд. мед. наук, ст. науч. сотр. Moscow, Russia

Andrei P. Smirnov

Pirogov Russian National Research Medical University

канд. мед. наук, доц. каф. неврологии, нейрохирургии и медицинской генетики Moscow, Russia

Anna V. Serdiuk

Pirogov Russian National Research Medical University

канд. мед. наук, ассистент каф. неврологии, нейрохирургии и медицинской генетики Moscow, Russia

Vladimir G. Leliuk

Federal center of brain and neurotechnologies

д-р мед. наук, проф., рук. отд. радиологии и клинической физиологии Moscow, Russia

Nikolai A. Shamalov

Federal center of brain and neurotechnologies

д-р мед. наук, проф. ФГБУ ФЦМН, гл. внештат. специалист по неврологии г. Москвы Moscow, Russia

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