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OBJECTIVE: To evaluate serum and cerebrospinal fluid (CSF) NAA concentrations in patients with different demyelinating disease phenotypes and to correlate them with clinical measures. BACKGROUND: NAA is considered a marker of the functional integrity of neuronal mitochondrial metabolism that is mainly catabolised in oligodendrocytes. Normal appearing white matter (NAWM) damage, reported in MS but not in NMO by MRI studies, is associated with decreased brain NAA levels. No studies are known that measured NAA in serum of demyelinating diseases. DESIGN/METHODS: Fifty-three patients with RRMS, 20 with NMO and 103 age matched healthy controls (HCs) were included in the study. Serum and CSF NAA levels were obtained by using Liquid Chromatography-Mass-Spectrometry method. Coeval clinical and CSF parameters were evaluated. RESULTS: Significant higher NAA serum levels (1.650.59 mM/L) were found in MS patients in comparison to NMO (0.190.25 mM/L) and HCs (0.260.24 mM/L) (p=0.0001). NAA levels were significantly higher in serum than in CSF of patients with demyelinating disease (p=0.0001). No correlations were found between NAA serum levels and age both in all groups. In MS serum and CSF NAA levels significantly correlated with EDSS score (r=0.33; p=0.015 and r=0.27; p=0.057 respectively) whereas no correlations were found in NMO. CONCLUSIONS/RELEVANCE: The higher serum NAA levels in MS in comparison to NMO might indicate an enhanced NAA efflux due to more extensive axonal impairment and defective metabolism in damaged oligodendrocytes Category – MS and Related Diseases – Clinical Science

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