The case of transthyretin familial amyloid polyneuropathy: diagnostic search

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Abstract

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is rare hereditary degenerative disease. It is based on the deposition of amiloid in the peripheral nerves, which leads to axonal degeneration. The disease is demonstrate steadily progressing sensomotor and autonomic polyneuropathy. In non-endemic regions and in the absence of a family history, the diagnostics is very difficult and it takes a long time. Most often it is difficult to make a differential diagnosis between TTR-FAP and chronic inflammatory demyelinating polyneuropathy. The case of TTR-FAP in a patient with a genetically confirmed mutation Phe53Leu in the gene of transtyretin shows a diagnostic search for a given disease.

About the authors

A. P Smirnov

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation

канд. мед. наук, доц. каф. неврологии, нейрохирургии и медицинской генетики 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1

A. V Serdyuk

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation

канд. мед. наук, ассистент каф. неврологии, нейрохирургии и медицинской генетики 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1

E. A Kovrazhkina

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation

Email: elekov2@yandex.ru
канд. мед. наук, ст. науч. сотр. НИИ цереброваскулярной патологии и инсульта 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1

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