Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.
Ataxia telangiectasia
Biomarker
Disease progression
Neurodegeneration
Neurofilament light chain
NfL
Journal
Cerebellum (London, England)
ISSN: 1473-4230
Titre abrégé: Cerebellum
Pays: United States
ID NLM: 101089443
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
accepted:
10
03
2021
pubmed:
25
4
2021
medline:
7
4
2022
entrez:
24
4
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33893614
doi: 10.1007/s12311-021-01257-4
pii: 10.1007/s12311-021-01257-4
pmc: PMC8885493
doi:
Substances chimiques
Biomarkers
0
Neurofilament Proteins
0
Types de publication
Clinical Trial
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
39-47Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021. The Author(s).
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