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