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Journal Articles Journal of Neurology Year : 2020

NfL and pNfH are increased in Friedreich’s ataxia

Stefanie Nicole Hayer
  • Function : Author
Inga Liepelt
  • Function : Author
  • PersonId : 1359579
Christian Barro
  • Function : Author
  • PersonId : 1359580
Carlo Wilke
  • Function : Author
  • PersonId : 1359581
Jens Kuhle
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  • PersonId : 1359582
Peter Martus
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  • PersonId : 1359583
Ludger Schöls
  • Function : Author
  • PersonId : 1359584
Bernhard Schulz Jörg
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Kathrin Reetz
  • Function : Author
Kathrin Fedosov
  • Function : Author
Claire Didszun
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Thomas Klockgether
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Ilaria Giordano
  • Function : Author
Massimo Pandolfo
  • Function : Author
Chantal Depondt
  • Function : Author
Myriam Rai
  • Function : Author
Sylvia Boesch
  • Function : Author
Wolfgang Nachbauer
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Elisabetta Indelicato
  • Function : Author
Paola Giunti
  • Function : Author
Michael Parkinson
  • Function : Author
Katarina Manso
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Gilbert Thomas-Black
  • Function : Author
Hector Garcia-Moreno
  • Function : Author
Nita Solanky
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James Polke
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Robin Labrum
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Garrido Rodríguez de Rivera
  • Function : Author
Javier Francisco
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Javier Mascias
  • Function : Author
Sara Sánchez Velasco
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Sergio Secades García
  • Function : Author
Caterina Mariotti
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Lorenzo Nanetti
  • Function : Author
Anna Castaldo
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Alessia Mongelli
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Mario Fichera
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Thomas Klopstock
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Ivan Karin
  • Function : Author
Claudia Stendel
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Florentine Radelfahr
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Marie Biet
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Perrine Charles
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Claire Ewenczyk
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Jennifer Just
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Georgios Koutsis
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Richard Walsh
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Enrico Bertini
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Abstract

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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hal-04488679 , version 1 (04-03-2024)

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Stefanie Nicole Hayer, Inga Liepelt, Christian Barro, Carlo Wilke, Jens Kuhle, et al.. NfL and pNfH are increased in Friedreich’s ataxia. Journal of Neurology, 2020, 267 (5), pp.1420-1430. ⟨10.1007/s00415-020-09722-6⟩. ⟨hal-04488679⟩
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