Background: Identification of the content of asialotransferrin in the cerebrospinal fluid is a diagnostic method for childhood-onset ataxia and central nervous system hypomyelination (CACH), also known as vanishing white matter disease (VWM), and also for other types of CNS disorders.
Methods: In our work, we have determined the value of the ratio of the asialo form of transferrin to the total transferrin in the CSF using the commercially used Variant(TM) Bio-Rad system for the determination of carbohydrate-deficient transferrin (CDT) in serum. The peak corresponding to the asialo form of transferrin was identified with electrophoresis with subsequent immunofixation and mass spectrometry (MALDI-TOF/TOF).
Results: The intra-assay and inter-assay variations of the asialotransferrin value in CSF were 6.8% and 10.2%, respectively. Analysing CSF samples of 60 subjects (23 men aged 22-68 years and 37 women aged 18-77 years) with normal transferrin values and normal cytology as well as biochemistry parameters in the cerebrospinal fluid, and without apparent signs of neurological disorders, we have found the presence of 25.2 +/- 8.2% asialotransferrin.
Conclusion: Except for the need to obtain approximately 1.5 mL of cerebrospinal fluid and a tenfold concentrating of the sample, there is no need to conduct any modifications of the preparation procedure for the analytic sample and chromatographic separation normally used for serum samples. The HPLC method of asialotransferrin determination in CSF provides clinically useful results.