TY  - JOUR
A1  - Wölke, Sandra
A1  - Donath, Helena
A1  - Theis, Marius
A1  - Kieslich, Matthias
A1  - Auburger, Georg
A1  - Schubert, Ralf
A1  - Schrewe, Roland
A1  - Zielen, Stefan
A1  - Dücker, Ruth Pia
T1  - Altered cerebrospinal fluid (CSF) in children with ataxia telangiectasia
T2  - The Cerebellum
N2  - Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia and immunodeficiency. The neurological decline may be caused by multiple factors of which ongoing inflammation and oxidative stress may play a dominant role. The objective of the present investigation was to determine cerebrospinal fluid (CSF) proteins and possible low-grade inflammation and its relation to age and neurological deterioration. In the present study, we investigated 15 patients with A-T from 2 to 16 years. Our investigation included blood and CSF tests, clinical neurological examination, A-T score, and MRI findings. The albumin ratio (AR) was analyzed to determine the blood–brain-barrier function. In addition, inflammatory cytokines (IL-1α, IL-6, IL-8, IL-12 p40, IL-17A, IFN-γ, TNF-α) were measured by the multiplex cytometric bead array. We compared the results with those from an age-matched control group. Three of the A-T patients were analyzed separately (one after resection of a cerebral meningioma, one after radiation and chemotherapy due to leukemia, one after stem cell transplantation). Patient had significantly more moderate and severe side effects due to CSF puncture (vomiting, headache, need for anti-emetic drugs) compared with healthy controls. Total protein, albumin, and the AR increased with age indicating a disturbed blood barrier function in older children. There were no differences for cytokines in serum and CSF with the exception of IL-2, which was significantly higher in controls in serum. The AR is significantly altered in A-T patients, but low-grade inflammation is not detectable in serum and CSF.
KW  - Ataxia telangiectasia
KW  - Cerebrospinal fluid
KW  - Cytokines
KW  - Albumin ratio
KW  - Neurodegeneration
KW  - Ataxia score
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63696
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-636964
SN  - 1473-4230
N1  - This study was in part funded by a grant of the A-T Children`s Project: Oxidative stress, low grade inflammation, tissue breakdown and biomarkers in cerebrospinal fluid of A-T Open Access funding provided by Projekt DEAL.
VL  - 20
IS  - 1
SP  - 31
EP  - 40
PB  - Dunitz
CY  - London
ER  -