Deep brain stimulation improves symptoms in an individual with alpha-synuclein-gene-associated Parkinson’s disease

Abstract

Parkinson's disease (PD) is a progressive neurodegenerative disorder exhibiting a Mendelian pattern of inheritance in 5–10% of cases. Although the etiology is still largely unknown, it is widely accepted that PD is caused by aging and several genetic and environmental factors. Deep brain stimulation (DBS) is now established as a standard treatment modality for selected PD patients with levodopa‐induced motor complications and treatment‐refractory tremor. The treatment outcome of PD patients with monogenetic and genetic risk variants are of particular interest, with respect to predicting outcome from DBS, especially as genetic testing becomes more readily available. Monogenic forms of PD account for approximately 15% globally and pathogenic variants in the SNCA gene (including copy number variations (CNVs), that is, whole gene duplications and triplications) are rare and are found in only 0.1–0.2% of cases. 1 Here, we report the clinical outcome of an individual with an SNCA gene duplication who had undergone DBS surgery.