Objective: We aim to systematically review the current status of MRI, PET and SPECT imaging in asymptomatic (aPD) and symptomatic (sPD) genetic carriers of PD.

Background: Between 5 and 15% of Parkinson’s disease (PD) patients are carriers of genes linked with the development of PD. Studies on PD genetic carriers at an asymptomatic stage give a valuable opportunity to identify mechanisms underlying PD before the onset of motor symptoms.

Methods: A systematic review of neuroimaging studies in aPD and sPD was performed, following the PRISMA guidelines and recommendations. The MEDLINE, Web of Science, Cochrane and Scopus databases were searched for articles in all languages published up to 1^st November 2016 using the key words “CHCHD2; DJ-1; DNAJC6; EIF4G1; GBA; LRRK2; parkin; PINK1; RAB39B; SNCA and VPS35” combined with “Neuroimaging”, “MRI”, “SPECT and “PET”. Only peer-reviewed, primary research studies in aPD and sPD, and studies in which clinical features were described in association with neuroimaging results, were included in this review. Reviews, case reports and nonhuman studies were excluded.

Results: A total of 143 MRI, 83 PET and 55 SPECT studies were identified and reviewed. aPD-parkin, PINK1 and LRRK2 carriers revealed a reduction of [¹⁸F]DOPA and [¹²³I]-FP-CIT binding in the basal ganglia, suggesting a neurodegenerative process affecting the presynaptic dopaminergic terminals in the premotor stage of the disease. This alterations were not present in the basal ganglia of SNCA-aPD patients, whose [¹⁸F]DOPA and [¹²³I]-FP-CIT binding was similar to HC, suggesting no changes in the dopaminergic system of this mutation carriers. MRI studies showed an increased grey matter volume in the caudate, putamen and globus pallidus of aPD-parkin and PINK1 carriers, and in the striatum of aPD-LRRK2 carriers. An overall reduced functional connectivity was present in all mutation carrying individuals, except from SNCA-aPD patients, whose MRI was indistinguishable from HC.

Conclusions: PET, SPECT and MRI are powerful tools for assessing and understanding the potential differences between asymptomatic and symptomatic stages of genetic PD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neuroimaging-studies-in-familial-forms-of-parkinsons-disease-a-systematic-review/