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Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

Journal article
Authors M. Kapoor
M. Foiani
A. Heslegrave
Henrik Zetterberg
M. P. Lunn
A. Malaspina
J. D. Gillmore
A. M. Rossor
M. M. Reilly
Published in Journal of the Peripheral Nervous System
Volume 24
Issue 4
Pages 314-319
ISSN 1085-9489
Publication year 2019
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 314-319
Language en
Links dx.doi.org/10.1111/jns.12350
Keywords biomarkers, hereditary transthyretin amyloidosis, neurofilament light chain, neuropathy impairment
Subject categories Neurology, Neurosciences

Abstract

Hereditary transthyretin amyloidosis (ATTRm) causes a disabling peripheral neuropathy as part of a multisystem disorder. The recent development of highly effective gene silencing therapies has highlighted the need for effective biomarkers of disease activity to guide the decision of when to start and stop treatment. In this study, we measured plasma neurofilament light chain (pNfL) concentration in 73 patients with ATTR and found that pNfL was significantly raised in ATTRm patients with peripheral neuropathy compared to healthy controls. Furthermore, pNFL correlated with disease severity as defined by established clinical outcome measures in patients for whom this information was available. These findings suggest a potential role of pNfL in monitoring disease activity and progression in ATTRm patients.

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