Aim

Neurofilament light chain (NfL) is recognized as a blood biomarker in several neurodegenerative disorders, but its possible relevance in Ataxia Telangiectasia (A-T) has not been examined. The aim of this study was to investigate the biomarker potential of blood NfL concentrations in patients with A-T.

Method

Blood (serum/plasma) NfL concentrations were measured in a Dutch and an American cohort of patients with A-T and compared to control values. Additionally, correlations between NfL concentrations and disease phenotype (classic versus variant A-T) were studied.

Results

In total 40 (23 Dutch and 17 American) patients with A-T (32 patients with classic A-T and 7 patients with variant A-T) and 17 age- and gender-matched (to the American cohort) healthy controls were included in this study. Blood (serum/plasma) NfL concentrations in patients with classic A-T and age ≤ 12 years were elevated compared to age matched controls. Patients with classic A-T > 12 years also had higher blood (serum/plasma) NfL concentrations (here: compared to age-dependent reference values found in the literature). Patients with classic A-T had higher blood (serum/plasma) NfL concentrations than patients with the variant phenotype.

Conclusion

Blood (serum/plasma) NfL concentrations are elevated in patients with classic A-T and appear to correlate with the disease phenotype (classic versus variant). Therefore, blood (serum/plasma) NfL may be a promising biomarker in A-T.

中文翻译：

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神经丝轻链：共济失调毛细血管扩张症患者的新型血液生物标志物

目标

在许多神经退行性疾病中，神经丝轻链（NfL）被认为是血液生物标志物，但尚未检查其与共济失调毛细血管扩张症（AT）的相关性。这项研究的目的是调查AT患者血液中NfL浓度的生物标志物潜力。

方法

在荷兰和美国患有AT的患者队列中测量了血液（血清/血浆）NfL浓度，并将其与对照值进行了比较。此外，还研究了NfL浓度与疾病表型（经典与变异AT）之间的相关性。

结果

本研究共纳入了40位（23位荷兰人和17位美国）AT患者（32位经典AT患者和7位AT变异患者）以及17位年龄和性别相匹配的患者（针对美国人群）。与年龄相匹配的对照组相比，经典AT且年龄≤12岁的患者的血液（血清/血浆）NfL浓度升高。经典AT> 12岁的患者也具有较高的血液（血清/血浆）NfL浓度（此处：与文献中发现的年龄相关参考值相比）。经典AT患者的血液（血清/血浆）NfL浓度高于变异表型患者。

结论

患有经典AT的患者的血液（血清/血浆）NfL浓度升高，并且似乎与疾病表型相关（经典与变异）。因此，血液（血清/血浆）NfL可能是AT中有希望的生物标志物。