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Clinical Trial
. 2022 Feb;21(1):39-47.
doi: 10.1007/s12311-021-01257-4. Epub 2021 Apr 24.

Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia

H Donath  1 , S Woelke  2 , R Schubert  2 , M Kieslich  3 , M Theis  3 , G Auburger  4 , R P Duecker  2 , S Zielen  2
Affiliations
Clinical Trial

Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia

H Donath et al. Cerebellum. 2022 Feb.

Erratum in

Abstract

Ataxia telangiectasia (A-T) is a progressive and life-limiting disease associated with cerebellar ataxia due to progressive cerebellar degeneration. In addition to ataxia, which is described in detail, the presence of chorea, dystonia, oculomotor apraxia, athetosis, parkinsonism, and myoclonia are typical manifestations of the disease. The study aimed to evaluate the specificity and sensitivity of neurofilament light chain (NfL) as a biomarker of neurodegeneration in relation to SARA score. In this prospective trial, one visit of 42 A-T patients aged 1.3-25.6 years (mean 11.6 ± 7.3 years) was performed, in which NfL was determined from serum by ELISA. Additionally, a neurological examination of the patients was performed. Blood was collected from 19 healthy volunteers ≥ 12 years of age. We found significantly increased levels of NfL in patients with A-T compared to healthy controls (21.5 ± 3.6 pg/mL vs. 9.3 ± 0.49 pg/mL, p ≤ 0.01). There was a significant correlation of NfL with age, AFP, and SARA. NfL is a new potential progression biomarker in blood for neurodegeneration in A-T which increases with age.

Keywords: Ataxia telangiectasia; Biomarker; Disease progression; Neurodegeneration; Neurofilament light chain; NfL.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Comparison of NfL serum levels between A-T patients (n = 42) and healthy controls (n = 19). The hatched line marks the detection limit of 7.8 pg/mL
Fig. 2
Fig. 2
a Correlation of NfL with age in A-T patients (r = 0.45, p ≤ 0.01). The hatched line marks the detection limit of 7.8 pg/mL. b Correlation of NfL with age in healthy controls (r = 0.58, p ≤ 0.01) The hatched line marks the detection limit of 7.8 pg/mL.
Fig. 3
Fig. 3
Correlation of AFP with NfL (r = 0.34, p ≤ 0.05)
Fig. 4
Fig. 4
Correlation of NfL with SARA in A-T patients (r = 0.41, p ≤ 0.05)
Fig. 5
Fig. 5
ROC analysis of NfL (blue) and AFP (red)
Fig. 6
Fig. 6
MRI scans (T2) of two A-T patients. Patient 1: a 4.4-year-old boy with mild neurological deficit, SARA of 7 points, and normal NfL. Patient 2: a 21.3-year-old man with severe neurological deficit, SARA of 28 points, and high levels of NfL
See this image and copyright information in PMC

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