The Neuropathy in Hereditary Transthyretin Amyloidosis: A Narrative Review

Overview

Journal J Peripher Nerv Syst

Publisher Wiley

Specialty Neurology

Date 2021 May 7

PMID 33960565

Citations 37

Authors

Stefano Tozza

Daniele Severi

Emanuele Spina

Aniello Iovino

Francesco Aruta

Lucia Ruggiero

Raffaele Dubbioso

Rosa Iodice

Maria Nolano

Fiore Manganelli

Affiliations

Soon will be listed here.

Abstract

Hereditary transthyretin amyloidosis (ATTRv) is a condition with adult onset, caused by mutation of the transthyretin (TTR) gene and characterized by extracellular deposition of amyloid fibrils in tissue, especially in the peripheral nervous system (PNS) and heart. PNS involvement leads to a rapidly progressive and disabling sensory-motor axonal neuropathy. Although awareness among neurologists increased in recent years thanks to new treatment options, ATTRv is frequently misdiagnosed, and thus a correct diagnosis can be delayed by several years. This review aims to draw the history and features of polyneuropathy in ATTRv based on pathological and electrophysiological correlates. We assessed original articles and case reports based on their relevance to ATTRv neuropathy and we included those appropriate for the scheme of this narrative review. Amyloid fibrils initially deposit in ganglia, causing an axonal neuropathy without amyloid deposits in distal segments (eg, sural nerve biopsy). Over time, amyloid fibrils spread along the nerves, leading to some demyelinating features in the context of severe axonal loss. This review highlights how the features of neuropathy change based on type of ATTRv (early vs late onset) and stage of disease.

Citing Articles

Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis.

Canciello G, Tozza S, Todde G, Nolano M, Borrelli F, Palumbo G Orphanet J Rare Dis. 2024; 19(1):458.

PMID: 39639351 PMC: 11619093. DOI: 10.1186/s13023-024-03473-7.

Clinical Cues for the Early Diagnosis of Transthyretin-Related Polyneuropathy.

Escolano-Lozano F, Dimova V, Baka P, Geber C, Birklein F J Clin Neurol. 2024; 20(6):610-616.

PMID: 39505313 PMC: 11543390. DOI: 10.3988/jcn.2024.0246.

Management Targeted Genetic Evaluation of an Idiopathic Neuropathy Cohort Through ATTRv Amyloidosis Screening.

Fisher K, Diaz S, Gelblum J, Brock C, Suresh N, Towne M HCA Healthc J Med. 2024; 5(4):405-413.

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Assessing the effectiveness and safety of Patisiran and Vutrisiran in ATTRv amyloidosis with polyneuropathy: a systematic review.

Karimi M, Esmaeilpour Moallem F, Gholami Chahkand M, Azarm E, Emami Kazemabad M, Dadkhah P Front Neurol. 2024; 15:1465747.

PMID: 39286810 PMC: 11402727. DOI: 10.3389/fneur.2024.1465747.

Detection of ATTR aggregates in the plasma of polyneuropathic patients with ATTR-V30M amyloidosis.

Pedretti R, Wang L, Grodin J, Masri A, Kelly J, Saelices L Amyloid. 2024; 31(4):350-352.

PMID: 39283068 PMC: 11598669. DOI: 10.1080/13506129.2024.2404073.

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