Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy

Abstract

BACKGROUND:: Mutations of the neuronal nicotinic acetylcholine (nACh) receptor identified in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) lead to increased sensitivity to ACh. As activation of presynaptic nicotinic receptors augments the release of dopamine in the striatum and the prefrontal regions, we tested the hypothesis that that the ±4-Ser248Phe mutation affects dopaminergic transmission. METHODS:: We measured D1 receptor binding using [C]-SCH23390 and PET in 12 subjects with the ±4-Ser248Phe mutation (3 men, mean age 41 ± 16 years) and 19 controls (8 men, mean age 36 ± 13 years) matched for gender, smoking status, and age. Parametric images were produced u..