Disfunzione dopaminergica con caratteristiche simili in pazienti con sindrome del cromosoma 20 ad anello ed epilessia temporale : studio pre e post-sinaptico mediante SPECT

Experimental and clinical data suggest a basal ganglia involvement in different types of refractory epilepsy. The aim of this study is to determine if SPET study reveals differences between patients affected by ring chromosome 20 syndrome [(R(20)] and patients with drug-resistant temporal lobe epilepsy [TLE] in presynaptic termination of dopaminergic nigro-striatal neurons and postsynaptic dopamine receptors, administrating 123I-ioflupane and 123I-IBZM. Patients with R(20) and TLE showed a similar pattern of postsynaptic dopaminergic dysfunction. Regarding the presynaptic termination of dopaminergic nigro-striatal neurons, we found a wide heterogeneity in R(20) group, probably related to large clinical differences. Interestingly, patients with a lower seizure frequency showed a higher dopaminergic activity, and an inverse correlation between mosaicism percentage and dopaminergic nigro-striatal neurons occurred.