Successful GPi stimulation in genetic Parkinson's disease caused by mosaicism of alpha-synuclein gene duplication: first description

CLAUDIA PERANDONES; ARÁOZ OLIVOS N; GABRIELA BEATRIZ RAINA; LUIS PELLENE; GIUGNI JC; CALVO DS; RADRIZZANI M; PIEDIMONTE F; MICHELI FE

JOURNAL OF NEUROLOGY

DR DIETRICH STEINKOPFF VERLAG

Lugar: Springer Berlin Heidelberg; Año: 2014

0340-5354

DBS is an established therapy for advanced PD [1] and has been reported to be efficacious in a few patients with monogenic parkinsonisms such as LRRK2, Parkin, and PINK1 [2?6]. By contrast, knowledge about the outcome of DBS in patients with SNCA mutations is scarce, since only one case has been reported to date [7]. We now report the case of a 26-year-old male with Parkinson?s disease due to mosaicism of alpha-synuclein duplication, who has successfully undergone GPi-DBS. The patient, who has no family history of PD, developed PD at the age of 18. He initially presented dystonic posturing and tremor in his left foot. Within a few months, this had progressed to micrographia, bradykinesia and resting tremor in his upper left limb. He subsequently developed mild autonomic failure, and mild cognitive decline, as well as behavior disorders (rage episodes, panic attacks, and hallucinations). He initially showed good response to dopamine agonists, but after a short period levodopa wa ...