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Mutations in the α-synuclein gene are a rare cause of Parkinson's disease. We investigated, by single-pulse TMS, the cortical excitability profile of nine α-synuclein patients in comparison with 24 idiopathic PD patients, subdivided into "akinetic" (n=17) and "tremor-dominant" (n=7) subgroups. The comparative assessment of rest motor threshold, active MEP and Silent Period Input/Output curves indicated that the cortical excitability of α-Synuclein patients is similar to patients with the "akinetic" form of PD. Both groups of patients exhibited differences in excitatory and inhibitory brain circuits from "tremor-dominant" patients indicating that varying clinical phenotypes are associated with differential profiles of corticospinal excitability., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Autosomal dominant familial Parkinson's disease (PD) due to the alpha-synuclein (G209A) mutation shares similar clinical characteristics with sporadic PD. Pathological studies however indicate more widespread neuronal degeneration in the familial form. We performed (123)I-FP-CIT SPET (DaTSCAN) study in nine patients with familial PD carrying the alpha-synuclein (G209A) mutation and fifteen matched patients with sporadic disease. Both groups had equal radioligand reduction uptake in the striatum but the alpha-synuclein patients showed less asymmetry and increased putamen to caudate ratio. Our findings indicate that there are minor differences in DAT SPET parameters between alpha-synuclein and sporadic PD patients insufficient to provide differential diagnosis.