@article{3189269,
    title = "NfL and pNfH are increased in Friedreich's ataxia",
    author = "Hayer, Stefanie Nicole and Liepelt, Inga and Barro, Christian and Wilke, and Carlo and Kuhle, Jens and Martus, Peter and Schoels, Ludger and Schulz, and Joerg Bernhard and Reetz, Kathrin and Fedosov, Kathrin and Didszun, and Claire and Klockgether, Thomas and Giordano, Ilaria and Pandolfo, and Massimo and Depondt, Chantal and Rai, Myriam and Boesch, Sylvia and and Nachbauer, Wolfgang and Eigentler, Andreas and Indelicato, Elisabetta and and Giunti, Paola and Parkinson, Michael and Manso, Katarina and and Thomas-Black, Gilbert and Garcia-Moreno, Hector and Solanky, Nita and and Abeti, Rosella and Polke, James and Labrum, Robin and Garrido, Rodriguez and de Rivera Francisco Javier and Mascias, Javier and Velasco, Sanchez Sara and and Garcia, Secades Sergio and Mariotti, Caterina and Nanetti, Lorenzo and and Castaldo, Anna and Mongelli, Alessia and Fichera, Mario and and Klopstock, Thomas and Karin, Ivan and Stendel, Claudia and Radelfahr, and Florentine and Durr, Alexandra and Biet, Marie and Charles, Perrine and and Ewenczyk, Claire and Just, Jennifer and Koutsis, Georgios and Walsh, and Richard and Bertini, Enrico and EFACTS Study Grp",
    journal = "Egyptian Journal of Neurology, Psychiatry and Neurosurgery",
    year = "2020",
    volume = "267",
    number = "5",
    pages = "1420-1430",
    publisher = "Springer Berlin Heidelberg",
    doi = "10.1007/s00415-020-09722-6",
    keywords = "Neurofilament light chain; NfL; Friedreich's ataxia; Biomarker;
Neurofilament heavy chain; pNfH",
    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."
}