Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study

Quiroz, Yakeel T.; Zetterberg, Henrik; Reiman, Eric M.; Chen, Yinghua; Su, Yi; Fox‐Fuller, Joshua T; García, Gloria; Villegas, Andrés; Sepulveda‐Falla, Diego; Villada, Marina; Arboleda‐Velásquez, Joseph F.; Guzmán-Vélez, Edmarie; Vila‐Castelar, Clara; Gordon, Brian A.; Schultz, Stephanie A.; Protas, Hillary; Ghisays, Valentina; Giraldo, Margarita; Tirado, Victoria; Baena, Ana; Muñoz, Claudia; Ríos‐Romenets, Silvia; Tariot, Pierre N.; Blennow, Kaj; Lopera, Francisco

doi:10.1016/s1474-4422(20)30137-x

Cited by 108 publications

(89 citation statements)

References 25 publications

(25 reference statements)

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“…15,29,[88][89][90][91][92][93] Asymptomatic individuals that carry mutations had increased NfL levels and a higher rate of increase 9-15 years before symptom onset than individuals without a mutation. 15,[94][95][96] The incidence of sporadic AD increases with increasing age. The average age of onset is 80 years for the sporadic form (99% of patients) and 45 years for familial forms.…”

Section: Alzheimer Diseasementioning

confidence: 99%

Blood neurofilament light: a critical review of its application to neurologic disease

Barro

Chitnis

Weiner

2020

Ann Clin Transl Neurol

139

125

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Neuronal injury is a universal event that occurs in disease processes that affect both the central and peripheral nervous systems. A blood biomarker linked to neuronal injury would provide a critical measure to understand and treat neurologic diseases. Neurofilament light chain (NfL), a cytoskeletal protein expressed only in neurons, has emerged as such a biomarker. With the ability to quantify neuronal damage in blood, NfL is being applied to a wide range of neurologic conditions to investigate and monitor disease including assessment of treatment efficacy. Blood NfL is not specific for one disease and its release can also be induced by physiological processes. Longitudinal studies in multiple sclerosis, traumatic brain injury, and stroke show accumulation of NfL over days followed by elevated levels over months. Therefore, it may be hard to determine with a single measurement when the peak of NfL is reached and when the levels are normalized. Nonetheless, measurement of blood NfL provides a new blood biomarker for neurologic diseases overcoming the invasiveness of CSF sampling that restricted NfL clinical application. In this review, we examine the use of blood NfL as a biologic test for neurologic disease.

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Section: Alzheimer Diseasementioning

confidence: 99%

Blood neurofilament light: a critical review of its application to neurologic disease

Barro

Chitnis

Weiner

2020

Ann Clin Transl Neurol

139

125

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show abstract

“…However, even under normal circumstances, low levels of NfL are continuously released from axons in an age-dependent manner with typical NfL reference ranges in the CSF increasing by 2.5-fold between ages 20-50 years and doubling by the age of 70 8,9 . A considerable drawback of CSF NfL, and all CSF biomarkers, is the perceived invasiveness or complexity attached to lumbar punctures which will undoubtedly limit use for routine clinical assessment.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic value of plasma neurofilament light: A multicentre validation study

Ashton

Bateman

Khleifat

et al. 2020

Preprint

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Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as a marker of neurodegeneration in fifteen neurodegenerative diseases from two multicenter cohorts: King’s College London (n = 847) and the Swedish BioFINDER study (n = 1464). Plasma NfL was significantly increased in all cortical neurodegenerative disorders, amyotrophic lateral sclerosis and atypical parkinsonian disorders. We further demonstrate that plasma NfL is clinically useful in identifying, i) atypical parkinsonian disorders in patients with parkinsonism, ii) dementia in individuals with Down Syndrome, iii) detect cases of frontotemporal dementia among psychiatric disorders such as moderate and severe depression, iv) identify frontotemporal dementia in patients with cognitive impairment. Data-driven cut-offs highlighted the fundamental importance of age-related plasma NfL cut-offs for disorders with a younger age of onset. Finally, our findings suggest that plasma NfL performs best when a concentration cut-off is applied to indicate no underlying neurodegeneration, with low false positives, in all age-related cut-offs.

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“…Blood-based biomarkers of Aβ (A), tau (T) and neurodegeneration (N) in AD (that is, the ATN biomarkers) 9 include the Aβ 42 / Aβ 40 ratio 10 , P-tau181 (refs. [11][12][13] ) and neurofilament light (NfL) 14,15 , respectively. Aβ 42 /Aβ 40 and P-tau181 in plasma correlate with Aβ-PET and tau-PET findings, respectively, and can distinguish AD dementia from controls and non-AD neurodegenerative disorders [10][11][12][13]16 .…”

mentioning

confidence: 99%

Individualized prognosis of cognitive decline and dementia in mild cognitive impairment based on plasma biomarker combinations

et al. 2020

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April 2020 ADNI study, MCI patients were recruited from many different clinics between September 2005 and December 2019, and thereby represent a more selected sample (i.e. closer to a clinical trial population). Though this difference could introduce bias, the fact that our findings held when validated in both cohorts-and were consistent even when performing sensitivity analyses-speaks to their robustness. Ethics oversight For BioFINDER, ethical approval was given by the Regional Ethical Committee of Lund University. Ethical approval in ADNI was given by the local ethical committees. The Ethics committees/institutional review boards that approved the ADNI study are:

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Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study

Cited by 108 publications

References 25 publications

Blood neurofilament light: a critical review of its application to neurologic disease

Blood neurofilament light: a critical review of its application to neurologic disease

Diagnostic value of plasma neurofilament light: A multicentre validation study

Individualized prognosis of cognitive decline and dementia in mild cognitive impairment based on plasma biomarker combinations

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