Possible Biomarkers in Neurodegenerative Diseases, Metabolic Diseases and Epilepsy

This investigation strives to blend the neurosciences with clinical pediatric neurology to better understanding of neuronal mechanisms underlying the neurological diseases in pediatric patients and biomarkers of this process. In children (12 months-17 years) we measured the level of autoantibodies to glutamate receptors NR2A(NR2AaAB), GluR1(GluR1aAB), S100protein, neuron specific enolasa(NSE) and 3-nitrothyrosine(3-NT) in blood and plasma of 16 patients with neurodegenerative/neurometabolic diseases(ND) (Organic/Amino Acid Disorders, Krabbe Disease, mucopolysaccharidosis II,neuronal ceroid lipofuscinosis etc), in 5 with mitochondrial disorders(MD), in10 with epilepsy after the ischemic stroke(ISE), in 8 with cerebral palsy and epilepsy(CPE) and in 5 with multiple sclerosis(MS). The results obtained by us are as follows: the high level in NR2AaAB was found in all groups, especially in patients with ND 3,89 ± 0,74 ng/ml and MS3,32 ± 0,5(N < 2.0 ng/ml), less elevation was in children with structural epilepsy CPE/ISE. The significant elevation in GluR1aAB was in children with MD 3,57 ± 0,2(N < 2,0 ng/ml).The S100protein highest level was revealed in patients with structural epilepsy in CP(153,13 ± 41) and MD(149,8 ± 32 ng/l), less elevated in ISE(N < 90 ng/l). NSE high level was in MD(34,71 ± 8 μg/l)(N < 10). 3-NT level was high in all groups, especially in structural epilepsy in CP/IS. The elevated level of NR2AaAB in MS patients need further investigation. Children with MD and structural epilepsy(CPE/ISE) shows more numbers of elevated blood biomarkers than others, it may reflect the neuronal destructive processes in these patients in higher grade comparing with other groups. Biomarker research faced several challenges, however the blood-based biomarkers research in neurological disorders need further evaluation in clinical trials to impact on diagnosis and treatment of patients.