Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease

S100B, a small acidic protein, is a member of a multigenic family of calcium-modulated proteins. It is mainly produced by astrocytes and the secreted protein, depending on its concentration, can exert either trophic or toxic effects. In humans increased S100B levels have been detected in brain trauma and ischaemia, and neurodegenerative, neurometabolic, inflammatory and psychiatric disease. Serum S100B concentrations have been used as markers of brain disease. In the present study S100B serum levels were determined in patients with the neuroinflammatory disease X-linked adrenoleukodystrophy (X-ALD) and in patients with both the acute neuronopathic (type II) and the non-neuronopathic (type I) types of Gaucher disease (GD). Sixteen X-ALD patients (10 with the childhood, 4 with the adult cerebral forms, 2 asymptomatic) and 22 Gaucher disease patients (19 type I, 3 type II) were studied. No statistically significant differences were observed between the X-ALD (median 0.13 microg/L, p=0.191) or Gaucher type I patients (median 0.07 microg/L, p=0.095) and controls of similar age (median 0.10 microg/L, n=22). Serum S100B levels of type II Gaucher disease patients were also within the normal for their age range (patients 0.2, 0.22, 0.65; control median 0.81 microg/L, n=44). Lack of clinical symptoms and/or MRI findings in X-ALD patients was not associated with lower S100B values. Our results indicate that serum S100B levels cannot serve as peripheral marker in the evaluation of brain disease in X-ALD and GD.