TY  - JOUR
A1  - Pommerening, Helena
A1  - Wölke, Sandra
A1  - Schubert, Ralf
A1  - Kieslich, Matthias
A1  - Theis, Marius
A1  - Auburger, Georg
A1  - Dücker, Ruth Pia
A1  - Zielen, Stefan
T1  - Neurofilament light chain is a biomarker of neurodegeneration in ataxia telangiectasia
T2  - The cerebellum
N2  - 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.
KW  - Ataxia telangiectasia
KW  - Neurofilament light chain
KW  - NfL
KW  - Neurodegeneration
KW  - Disease progression
KW  - Biomarker
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/81297
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-812970
SN  - 1473-4230
N1  - Open Access funding enabled and organized by Projekt DEAL.
VL  - 21
IS  - 1
SP  - 39
EP  - 47
PB  - Springer US
CY  - New York
ER  -