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Serum neurofilament...
Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice
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Carroll, Antonia S. (author)
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Razvi, Yousuf (author)
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O'Donnell, Luke (author)
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Veleva, Elena (author)
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Heslegrave, Amanda (author)
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- Zetterberg, Henrik, 1973 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Vucic, Steve (author)
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Kiernan, Matthew C. (author)
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Rossor, Alexander M. (author)
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Gillmore, Julian D. (author)
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Reilly, Mary M. (author)
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(creator_code:org_t)
- 2024
- 2024
- English.
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In: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS. - 1350-6129 .- 1744-2818.
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- Background: Neurofilament light chain (NfL) has emerged as a sensitive biomarker in hereditary transthyretin amyloid polyneuropathy (ATTRv-PN). We hypothesise that NfL can identify conversion of gene carriers to symptomatic disease, and guide treatment approaches. Methods: Serum NfL concentration was measured longitudinally (2015-2022) in 59 presymptomatic and symptomatic ATTR variant carriers. Correlations between NfL and demographics, biochemistry and staging scores were performed as well as longitudinal changes pre- and post-treatment, and in asymptomatic and symptomatic cohorts. Receiver-operating analyses were performed to determine cut-off values. Results: NfL levels correlated with examination scores (CMTNS, NIS and MRC; all p < .01) and increased with disease severity (PND and FAP; all p < .05). NfL was higher in symptomatic and sensorimotor converters, than asymptomatic or sensory converters irrespective of time (all p < .001). Symptomatic or sensorimotor converters were discriminated from asymptomatic patients by NfL concentrations >64.5 pg/ml (sensitivity= 91.9%, specificity = 88.5%), whereas asymptomatic patients could only be discriminated from sensory or sensorimotor converters or symptomatic individuals by a NfL concentration >88.9 pg/ml (sensitivity = 62.9%, specificity = 96.2%) However, an NfL increment of 17% over 6 months could discriminate asymptomatic from sensory or sensorimotor converters (sensitivity = 88.9%, specificity = 80.0%). NfL reduced with treatment by 36%/year and correlated with TTR suppression (r = 0.64, p = .008). Conclusions: This data validates the use of serum NfL to identify conversion to symptomatic disease in ATTRv-PN. NfL levels can guide assessment of disease progression and response to therapies.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- ATTRv amyloidosis
- longitudinal
- neurofilament light chain
- polyneuropathy
- transthyretin
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Carroll, Antonia ...
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Razvi, Yousuf
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O'Donnell, Luke
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Veleva, Elena
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Heslegrave, Aman ...
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Zetterberg, Henr ...
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show more...
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Vucic, Steve
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Kiernan, Matthew ...
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Rossor, Alexande ...
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Gillmore, Julian ...
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Reilly, Mary M.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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AMYLOID-JOURNAL ...
- By the university
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University of Gothenburg