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Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

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source: Journal of Neuromuscular Diseases

year: 2019

authors: Kapoor M, Rossor AM, Laura M, Reilly MM

summary/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.

organization: UCL Institute of Neurology, UK

DOI: 10.3233/JND-180371

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