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Open Access 01-05-2020 | Spinocerebellar Degeneration | Original Communication

NfL and pNfH are increased in Friedreich’s ataxia

Authors: Stefanie Nicole Hayer, Inga Liepelt, Christian Barro, Carlo Wilke, Jens Kuhle, Peter Martus, Ludger Schöls, the EFACTS study group

Published in: Journal of Neurology | Issue 5/2020

Abstract

Objective

To assess neurofilaments as neurodegenerative biomarkers in serum of patients with Friedreich’s ataxia.

Methods

Single molecule array measurements of neurofilament light (NfL) and heavy chain (pNfH) in 99 patients with genetically confirmed Friedreich’s ataxia. Correlation of NfL/pNfH serum levels with disease severity, disease duration, age, age at onset, and GAA repeat length.

Results

Median serum levels of NfL were 21.2 pg/ml (range 3.6–49.3) in controls and 26.1 pg/ml (0–78.1) in Friedreich’s ataxia (p = 0.002). pNfH levels were 23.5 pg/ml (13.3–43.3) in controls and 92 pg/ml (3.1–303) in Friedreich’s ataxia (p = 0.0004). NfL levels were significantly increased in younger patients (age 16–31 years, p < 0.001) and patients aged 32–47 years (p = 0.008), but not in patients of age 48 years and older (p = 0.41). In a longitudinal assessment, there was no difference in NfL levels in 14 patients with repeated sampling 2 years after baseline measurement. Levels of NfL correlated inversely with GAA1 repeat length (r = − 0.24, p = 0.02) but not with disease severity (r = − 0.13, p = 0.22), disease duration (r = − 0.06, p = 0.53), or age at onset (r = 0.05, p = 0.62).

Conclusion

Serum levels of NfL and pNfH are elevated in Friedreich’s ataxia, but differences to healthy controls decrease with increasing age. Long-term longitudinal data are required to explore whether this reflects a selection bias from early death of more severely affected individuals or a slowing down of the neurodegenerative process with age. In a pilot study over 2 years of follow-up—a period relevant for biomarkers indicating treatment effects—we found NfL levels to be stable.

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Title: NfL and pNfH are increased in Friedreich’s ataxia
Authors: Stefanie Nicole Hayer
Inga Liepelt
Christian Barro
Carlo Wilke
Jens Kuhle
Peter Martus
Ludger Schöls
the EFACTS study group
Publication date: 01-05-2020
Publisher: Springer Berlin Heidelberg
Keywords: Spinocerebellar Degeneration
Biomarkers
Published in: Journal of Neurology / Issue 5/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09722-6

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

NfL and pNfH are increased in Friedreich’s ataxia

Abstract

Objective

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Objective

Methods

Results

Conclusion

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