SPECT Molecular Imaging in Familial Parkinson's Disease

Dopamine transporter (DAT) imaging with single-photon emission computed tomography (SPECT) is a diagnostic tool to study the integrity of the dopaminergic system in patients with parkinsonism and uncertain diagnosis. DAT SPECT enables to detect the presence of nigrostriatal deficit even in the early or pre-symptomatic stages of the disease and to quantify the DAT loss with the progression of nigrostriatal degeneration. For these reasons, DAT SPECT has been also used as a tool to study genetic conditions that are associated with parkinsonism in order to examine the degree and patterns of dopaminergic deficits that are present in at risk subjects and in affected patients carrying the mutations. Studies included subjects with sporadic mutations of common genes associated with Parkinson's disease (PD) and families with both affected patients and asymptomatic carriers. For obvious reasons, the majority of the studies have included a limited number of subjects. Therefore, because of the heterogeneity and the size of the cohorts examined, in many cases the findings can be merely descriptive and general conclusions on the patterns of dopaminergic deficit in different genetic conditions need to take into account some exceptions.