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Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

Kapoor, M; Rossor, AM; Laura, M; Reilly, MM; (2019) Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis. Journal of Neuromuscular Diseases 10.3233/JND-180371. (In press). Green open access

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Abstract

Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in the transthyretin gene (TTR) being the most common cause of hereditary amyloidosis. ATTRm amyloidosis is a multi-system disorder with cardiovascular, peripheral and autonomic nerve involvement that can be difficult to diagnose due to phenotypic heterogeneity. This review will focus on the neuropathic manifestations of ATTRm, the genotype-phenotype variability, the diagnostic approach and the recent therapeutic advances in this disabling condition.

Type: Article
Title: Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.3233/JND-180371
Publisher version: https://doi.org/10.3233/JND-180371
Language: English
Additional information: This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC 4.0) https://creativecommons.org/licenses/by-nc/4.0/
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10069951
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