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.
Highlights
Ataxia telangiectasia (A-T) is a pleiotropic and devastating human autosomal recessive disorder with genetic instability
We found significantly increased levels of neurofilament light chain (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) (Fig. 1)
This corresponds to an average increase in NfL of 0.31 pg/mL/year, while for the A-T patients, the average increase is 1.49 pg/mL/year
Summary
Ataxia telangiectasia (A-T) is a pleiotropic and devastating human autosomal recessive disorder with genetic instability. Prominent features are cerebellar degeneration, oculocutaneous telangiectasia, immunodeficiency, cancer predisposition, and endocrinological abnormalities, such as insulin resistance, diabetes, and growth retardation [1, 2]. Recurrent infections and aspiration contribute to lung disease and favor the development of bronchiectasis and respiratory failure [3, 4]. Various therapeutic approaches like bone marrow transplantation [5,6,7], dexamethasone treatment [8,9,10], and gene therapy [11,12,13] have been developed to positively influence the course of A-T, but still no treatment to cure the disease is available. The most important prognostic marker is the presence of residual ATM kinase activity which leads to the milder “variant” phenotype, while IgG2 deficiency and the hyper-IgM-phenotype are reverse markers [14,15,16]
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