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

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 an...

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Bibliographic Details
Published in:Journal of the peripheral nervous system 2019-12, Vol.24 (4), p.314-319
Main Authors: Kapoor, Mahima, Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Lunn, Michael P., Malaspina, Andrea, Gillmore, Julian D., Rossor, Alexander M., Reilly, Mary M.
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Amyloid Neuropathies, Familial - blood
Amyloid Neuropathies, Familial - complications
Amyloid Neuropathies, Familial - physiopathology
Amyloidosis
biomarkers
Female
Gene silencing
hereditary transthyretin amyloidosis
Humans
Male
Middle Aged
neurofilament light chain
Neurofilament Proteins - blood
Neurologi
Neurology
neuropathy impairment
neuropathy impairment score
Neurosciences
Neurovetenskaper
Patients
Peripheral neuropathy
Polyneuropathies - blood
Polyneuropathies - etiology
Polyneuropathies - physiopathology
Severity of Illness Index
Transthyretin
Young Adult
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Summary: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.
ISSN:1085-9489
1529-8027
DOI:10.1111/jns.12350