@article{f1ed0b781a3a45d4b0bd30c99278c7c2,
title = "Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis",
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.",
keywords = "biomarkers, hereditary transthyretin amyloidosis, neurofilament light chain, neuropathy impairment score, peripheral neuropathy",
author = "Mahima Kapoor and Martha Foiani and Amanda Heslegrave and Henrik Zetterberg and Lunn, {Michael P.} and Andrea Malaspina and Gillmore, {Julian D.} and Rossor, {Alexander M.} and Reilly, {Mary M.}",
note = "Funding Information: MK gratefully received funding from a patient's bequest. MMR is grateful to the Medical Research Council (MRC), MRC Centre grant (G0601943), and the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712) for their support. This research was also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. HZ has received funding from the European Research Council, the Swedish Research Council, the Wellcome Trust, the UK Dementia Research Institute at UCL, the Knut and Alice Wallenberg Foundation and the Leonard Wolfson Experimental Neurology Centre. MF has received funding from the Leonard Wolfson Experimental Neurology Centre. AH is funded by the Wolfson Foundation and the UK Dementia Research Institute. The Simoa instrument was bought using a Wellcome Trust multi-user equipment grant (PI: H.Z.). Study Funded by the NIHR UCLH Biomedical Research Centre Grant #BRC279566. Funding Information: H2020 European Research Council; Knut och Alice Wallenbergs Stiftelse; Leonard Wolfson Experimental Neurology Centre; Medical Research Council, Grant/Award Number: MRC Centre grant (G0601943); National Institute for Health Research University College London Hospitals Biomedical Research Centre, Grant/Award Number: #BRC279566; National Institutes of Neurological Diseases and Stroke and office of Rare Diseases, Grant/Award Number: U54NS065712; Swedish Research Council; UK Dementia Research Institute; Wellcome Trust multi‐user equipment grant Funding information Funding Information: MK gratefully received funding from a patient's bequest. MMR is grateful to the Medical Research Council (MRC), MRC Centre grant (G0601943), and the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712) for their support. This research was also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. HZ has received funding from the European Research Council, the Swedish Research Council, the Wellcome Trust, the UK Dementia Research Institute at UCL, the Knut and Alice Wallenberg Foundation and the Leonard Wolfson Experimental Neurology Centre. MF has received funding from the Leonard Wolfson Experimental Neurology Centre. AH is funded by the Wolfson Foundation and the UK Dementia Research Institute. The Simoa instrument was bought using a Wellcome Trust multi‐user equipment grant (PI: H.Z.). Study Funded by the NIHR UCLH Biomedical Research Centre Grant #BRC279566. Publisher Copyright: {\textcopyright} 2019 Peripheral Nerve Society",
year = "2019",
month = dec,
day = "1",
doi = "10.1111/jns.12350",
language = "English",
volume = "24",
pages = "314--319",
journal = "Journal of the Peripheral Nervous System",
issn = "1085-9489",
publisher = "Wiley-Blackwell",
number = "4",
}