Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis

Jelger Louwsma; Anne F. Brunger; Johan Bijzet; Bart J. Kroesen; Wilfried W. H. Roeloffzen; Antje Bischof; Jens Kuhle; Gea Drost; Fiete Lange; Jan B. M. Kuks; Reinold O. B. Gans; Bouke P. C. Hazenberg; Hans L. A. Nienhuis

doi:10.1080/13506129.2020.1815696

Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis

Jelger Louwsma, Anne F. Brunger, Johan Bijzet, Bart J. Kroesen, Wilfried W. H. Roeloffzen, Antje Bischof, Jens Kuhle, Gea Drost, Fiete Lange, Jan B. M. Kuks, Reinold O. B. Gans, Bouke P. C. Hazenberg, Hans L. A. Nienhuis^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

OBJECTIVE: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.

METHODS: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin (TTR) gene mutation carriers (TTRv carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and TTRv carriers (HC/TTRv). The single-molecule array (Simoa) assay was used to assess sNfL levels.

RESULTS: sNfL levels were increased both in 10 AL/PNP+ patients (p < .001) and in 10 AL/PNP- patients (p < .005) compared to 10 HC/AL individuals. sNfL levels were higher in AL/PNP+ patients than in AL/PNP- patients (p < .005). sNfL levels were also increased in 15 ATTRv/PNP+ patients, compared to both 15 HC/TTRv (p < .0001) and 15 TTRv carriers (p < .0001). ATTRv/PNP+ patients with progressive PNP (PND-score > I) had the highest sNfL levels compared to patients with early PNP (PND-score I) (p = .05). sNfL levels did not differ between TTRv carriers and HC/TTRv individuals. In the group comprising all healthy controls and in the group of TTRv carriers, sNfL levels correlated with age.

CONCLUSION: sNfL levels are increased in patients with PNP in both AL and ATTRv amyloidosis and are related to severity of PNP in ATTRv amyloidosis. sNfL is a promising biomarker to detect PNP, not only in ATTRv but also in AL amyloidosis.

Original language	English
Pages (from-to)	50-55
Number of pages	6
Journal	Amyloid
Volume	28
Issue number	1
Early online date	2020
DOIs	https://doi.org/10.1080/13506129.2020.1815696
Publication status	Published - Jan-2021

Keywords

Neurofilament light chain
systemic amyloidosis
polyneuropathy
biomarker
AL amyloidosis
ATTRv amyloidosis
AL
INVOLVEMENT
NEUROPATHY
CONSENSUS

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@article{89c48a55182246baac562275bb460ca7,

title = "Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis",

abstract = "OBJECTIVE: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.METHODS: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin (TTR) gene mutation carriers (TTRv carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and TTRv carriers (HC/TTRv). The single-molecule array (Simoa) assay was used to assess sNfL levels.RESULTS: sNfL levels were increased both in 10 AL/PNP+ patients (p < .001) and in 10 AL/PNP- patients (p < .005) compared to 10 HC/AL individuals. sNfL levels were higher in AL/PNP+ patients than in AL/PNP- patients (p < .005). sNfL levels were also increased in 15 ATTRv/PNP+ patients, compared to both 15 HC/TTRv (p < .0001) and 15 TTRv carriers (p < .0001). ATTRv/PNP+ patients with progressive PNP (PND-score > I) had the highest sNfL levels compared to patients with early PNP (PND-score I) (p = .05). sNfL levels did not differ between TTRv carriers and HC/TTRv individuals. In the group comprising all healthy controls and in the group of TTRv carriers, sNfL levels correlated with age.CONCLUSION: sNfL levels are increased in patients with PNP in both AL and ATTRv amyloidosis and are related to severity of PNP in ATTRv amyloidosis. sNfL is a promising biomarker to detect PNP, not only in ATTRv but also in AL amyloidosis.",

keywords = "Neurofilament light chain, systemic amyloidosis, polyneuropathy, biomarker, AL amyloidosis, ATTRv amyloidosis, AL, INVOLVEMENT, NEUROPATHY, CONSENSUS",

author = "Jelger Louwsma and Brunger, {Anne F.} and Johan Bijzet and Kroesen, {Bart J.} and Roeloffzen, {Wilfried W. H.} and Antje Bischof and Jens Kuhle and Gea Drost and Fiete Lange and Kuks, {Jan B. M.} and Gans, {Reinold O. B.} and Hazenberg, {Bouke P. C.} and Nienhuis, {Hans L. A.}",

year = "2021",

month = jan,

doi = "10.1080/13506129.2020.1815696",

language = "English",

volume = "28",

pages = "50--55",

journal = "Amyloid",

issn = "1350-6129",

publisher = "Taylor & Francis Group",

number = "1",

}

TY - JOUR

T1 - Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis

AU - Louwsma, Jelger

AU - Brunger, Anne F.

AU - Bijzet, Johan

AU - Kroesen, Bart J.

AU - Roeloffzen, Wilfried W. H.

AU - Bischof, Antje

AU - Kuhle, Jens

AU - Drost, Gea

AU - Lange, Fiete

AU - Kuks, Jan B. M.

AU - Gans, Reinold O. B.

AU - Hazenberg, Bouke P. C.

AU - Nienhuis, Hans L. A.

PY - 2021/1

Y1 - 2021/1

N2 - OBJECTIVE: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.METHODS: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin (TTR) gene mutation carriers (TTRv carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and TTRv carriers (HC/TTRv). The single-molecule array (Simoa) assay was used to assess sNfL levels.RESULTS: sNfL levels were increased both in 10 AL/PNP+ patients (p < .001) and in 10 AL/PNP- patients (p < .005) compared to 10 HC/AL individuals. sNfL levels were higher in AL/PNP+ patients than in AL/PNP- patients (p < .005). sNfL levels were also increased in 15 ATTRv/PNP+ patients, compared to both 15 HC/TTRv (p < .0001) and 15 TTRv carriers (p < .0001). ATTRv/PNP+ patients with progressive PNP (PND-score > I) had the highest sNfL levels compared to patients with early PNP (PND-score I) (p = .05). sNfL levels did not differ between TTRv carriers and HC/TTRv individuals. In the group comprising all healthy controls and in the group of TTRv carriers, sNfL levels correlated with age.CONCLUSION: sNfL levels are increased in patients with PNP in both AL and ATTRv amyloidosis and are related to severity of PNP in ATTRv amyloidosis. sNfL is a promising biomarker to detect PNP, not only in ATTRv but also in AL amyloidosis.

AB - OBJECTIVE: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.METHODS: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin (TTR) gene mutation carriers (TTRv carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and TTRv carriers (HC/TTRv). The single-molecule array (Simoa) assay was used to assess sNfL levels.RESULTS: sNfL levels were increased both in 10 AL/PNP+ patients (p < .001) and in 10 AL/PNP- patients (p < .005) compared to 10 HC/AL individuals. sNfL levels were higher in AL/PNP+ patients than in AL/PNP- patients (p < .005). sNfL levels were also increased in 15 ATTRv/PNP+ patients, compared to both 15 HC/TTRv (p < .0001) and 15 TTRv carriers (p < .0001). ATTRv/PNP+ patients with progressive PNP (PND-score > I) had the highest sNfL levels compared to patients with early PNP (PND-score I) (p = .05). sNfL levels did not differ between TTRv carriers and HC/TTRv individuals. In the group comprising all healthy controls and in the group of TTRv carriers, sNfL levels correlated with age.CONCLUSION: sNfL levels are increased in patients with PNP in both AL and ATTRv amyloidosis and are related to severity of PNP in ATTRv amyloidosis. sNfL is a promising biomarker to detect PNP, not only in ATTRv but also in AL amyloidosis.

KW - Neurofilament light chain

KW - systemic amyloidosis

KW - polyneuropathy

KW - biomarker

KW - AL amyloidosis

KW - ATTRv amyloidosis

KW - AL

KW - INVOLVEMENT

KW - NEUROPATHY

KW - CONSENSUS

U2 - 10.1080/13506129.2020.1815696

DO - 10.1080/13506129.2020.1815696

M3 - Article

C2 - 32883119

SN - 1350-6129

VL - 28

SP - 50

EP - 55

JO - Amyloid

JF - Amyloid

IS - 1

ER -

Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis

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