| Title: |
NfL and pNfH are increased in Friedreich's ataxia |
| Authors: |
Hayer, SN; Liepelt, I; Barro, C; Wilke, C; Kuhle, J; Martus, P; Schoels, L; Schulz, JB; Reetz, K; Fedosov, K; Didszun, C; Klockgether, T; Giordano, I; Pandolfo, M; Depondt, C; Rai, M; Boesch, S; Nachbauer, W; Eigentler, A; Indelicato, E; Giunti, P; Parkinson, M; Manso, K; Thomas-Black, G; Garcia-Moreno, H; Solanky, N; Abeti, R; Polke, J; Labrum, R; Garrido, RDRFJ; Mascias, J; Velasco, SS; Garcia, SS; Mariotti, C; Nanetti, L; Castaldo, A; Mongelli, A; Fichera, M; Klopstock, T; Karin, I; Stendel, C; Radelfahr, F; Durr, A; Biet, M; Charles, P; Ewenczyk, C; Just, J; Koutsis, G; Walsh, R; Bertini, E |
| Source: |
Journal of Neurology , 267 pp. 1420-1430. (2020) |
| Publisher Information: |
SPRINGER HEIDELBERG |
| Publication Year: |
2020 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Neurofilament light chain; NfL; Friedreich’s ataxia; Biomarker; Neurofilament heavy chain; pNfH |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf; https://discovery.ucl.ac.uk/id/eprint/10092217/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf; https://discovery.ucl.ac.uk/id/eprint/10092217/ |
| Rights: |
open |
| Accession Number: |
edsbas.7D3F6DDD |
| Database: |
BASE |