Background: The Sturge-Weber syndrome (SWS), a vascular disorder with leptomeningeal capillary-venous malformations, is thought to be caused by somatic mutations in the GNAQ gene. However, the relationship between SWS and epileptogenesis is still unknown.Overexpression of adenosine kinase (ADK) has been regarded as a pathologic hallmark of epilepsy. We hypothesize that abnormal expression of ADK, may play an important role in
epileptogenesis of SWS patients with refractory epilepsy.
Methods: Immunnohistochemistry was used to examine the expression of adenosine kinase (ADK) in cortical specimens from patients with SWS (n=12), and compared with control cortical tissue.
Results: Consistent with previous studies, astrogliosis and the loss of neuronal cells were demonstrated in the lesions area of SWS. In addition, it was first time to reveal the overexpression of ADK, both neuronal and astroglial, with a predominant cytoplasmic localization, in patients with SWS.
Conclusion: These results suggest that over-expression of ADK is a common pathologic hallmark of SWS, which may be crucial in the epileptogenesis of SWS.