@article{e56763e340b343ba849dd149db08fc00,
title = "Clinical presentation, diagnosis and treatment of TTR amyloidosis",
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.",
keywords = "Amyloid, gene-silencing, polyneuropathy, treatment, TTR",
author = "Mahima Kapoor and Rossor, {Alexander M.} and Matilde Laura and Reilly, {Mary M.}",
note = "Funding Information: AMR is funded by a Wellcome Trust Postdoctoral Fellowship for Clinicians (110043/Z/15/Z). MMR is grateful to the Medical Research Council (MRC), MRC Centre grant (G0601943), and AMR has received support from Alnylam UK Limited to attend scientific meetings and an honorarium for speaking at a sponsored symposium. MMR has or has had consultancies with Alnylam Pharmaceuticals and Ionis Pharmaceuticals and MMR and ML were involved in the NEURO-TTR Trial (Clinical-Trials.gov Identifier: NCT01737398). Publisher Copyright: {\textcopyright} 2019 - IOS Press and the authors. All rights reserved.",
year = "2019",
doi = "10.3233/JND-180371",
language = "English",
volume = "6",
pages = "189--199",
journal = "Journal of Neuromuscular Diseases",
issn = "2214-3599",
publisher = "IOS Press",
number = "2",
}