2019
DOI: 10.1371/journal.pone.0211575
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Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients

Abstract: People with Down syndrome (DS) are at high risk of developing Alzheimer disease (AD) with aging. The diagnosis and treatment trials are hampered by a lack of reliable blood biomarkers. Plasma neurofilament light chain (NfL) is one of the established biomarkers of AD, suggesting that it may be useful as an indicator of dementia in DS patients. The aims of this study were: 1) to examine whether plasma levels of NfL in DS patients are correlated with decreased adaptive behavior scores one year after sample collec… Show more

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Cited by 29 publications
(30 citation statements)
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“…Therefore, this study shows promise in plasma NfL discriminating between FTD and psychiatric disorders when the signi cant clinical overlap does exist 26 . Our data is also consistent with previous studies on plasma NfL in DS [53][54][55] where an increase of plasma NfL levels were substantially higher in the DSAD group. Using our de ned concentration cut-offs, we were able differentiate DSAD from DS in the KCL cohort (AUC = 91%) and demonstrate that all DSAD patients exhibited abnormal plasma NfL when applying cut-offs.…”
Section: Discussionsupporting
confidence: 93%
“…Therefore, this study shows promise in plasma NfL discriminating between FTD and psychiatric disorders when the signi cant clinical overlap does exist 26 . Our data is also consistent with previous studies on plasma NfL in DS [53][54][55] where an increase of plasma NfL levels were substantially higher in the DSAD group. Using our de ned concentration cut-offs, we were able differentiate DSAD from DS in the KCL cohort (AUC = 91%) and demonstrate that all DSAD patients exhibited abnormal plasma NfL when applying cut-offs.…”
Section: Discussionsupporting
confidence: 93%
“…In the initial AT(N) proposal, these neurodegenerative biomarkers were not included, however, their potential utility in DS was appreciated. The steady increase in NfL with increasing age may be particularly useful for assessing overall disease progression [ 32 ]. Overall, we searched for correlations between biomarkers and with age, APOE ε4 status and clinical assessments of cognition and function.…”
Section: Discussionmentioning
confidence: 99%
“…Each assay was run according to the manufacturer assay definitions. Since NfL results were available from both single and multiplex assays and the correlation coefficient was very high (R 2 = 0.92), single plex Simoa NfL data were used in all analyses [ 32 ].…”
Section: Methodsmentioning
confidence: 99%
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“…To assess amyloid-β (Aβ) deposition in the brain, which is the earliest pathological signature of AD, ratios of plasma Aβ-related peptides, APP669-711/Aβ1-42 and Aβ1-40/ Aβ1-42, and their composites are to be measured using the immunoprecipitation-mass spectrometry assay ( 43 ). In addition, plasma concentrations of tau phosphorylated at threonine 181 (p-tau181) and neurofilament light chain (NfL) are to be assessed using the single-molecule array (SimoaTM) platform ( 44 , 45 ).…”
Section: Methodsmentioning
confidence: 99%