Neurofilament light chain is a biomarker of neurodegeneration in ataxia telangiectasia
- 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.
Author: | Helena PommereningORCiDGND, Sandra Wölke, Ralf SchubertGND, Matthias Kieslich, Marius TheisORCiDGND, Georg AuburgerORCiDGND, Ruth Pia DückerORCiDGND, Stefan ZielenORCiDGND |
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URN: | urn:nbn:de:hebis:30:3-812970 |
DOI: | https://doi.org/10.1007/s12311-021-01257-4 |
ISSN: | 1473-4230 |
Parent Title (English): | The cerebellum |
Publisher: | Springer US |
Place of publication: | New York |
Document Type: | Article |
Language: | English |
Date of Publication (online): | 2021/04/24 |
Date of first Publication: | 2021/04/24 |
Publishing Institution: | Universitätsbibliothek Johann Christian Senckenberg |
Release Date: | 2024/02/28 |
Tag: | Ataxia telangiectasia; Biomarker; Disease progression; Neurodegeneration; Neurofilament light chain; NfL |
Volume: | 21 |
Issue: | 1 |
Page Number: | 9 |
First Page: | 39 |
Last Page: | 47 |
Note: | Open Access funding enabled and organized by Projekt DEAL. |
HeBIS-PPN: | 520378512 |
Institutes: | Medizin |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Sammlungen: | Universitätspublikationen |
Licence (German): | ![]() |