Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.
biomarkers
hereditary transthyretin amyloidosis
neurofilament light chain
neuropathy impairment score
peripheral neuropathy
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
18
08
2019
revised:
15
09
2019
accepted:
16
09
2019
pubmed:
5
10
2019
medline:
11
8
2020
entrez:
5
10
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
Neurofilament Proteins
0
neurofilament protein L
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
314-319Subventions
Organisme : Department of Health
ID : BRC279566
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : MALASPINA/APR13/817-791
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Organisme : Motor Neurone Disease Association
ID : TURNER/OCT15/972-797
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0601943
Pays : United Kingdom
Informations de copyright
© 2019 Peripheral Nerve Society.
Références
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