A stimulating rarity

<h3></h3> The G51D point mutation in the alpha-synuclein gene (SNCA) typically leads to early onset, rapidly progressive Parkinson’s disease (PD), frequently associated with prominent neuropsychiatric symptoms. We present a 32 year old female patient with such a G51D <i>SNCA</i> point mutation who first developed asymmetrical Parkinsonism at age 23 which had quickly progressed by age 27 into profound Parkinsonism with substantial gait impairment complicated by disabling dystonia, requiring intermittent wheelchair usage, unpredictable dyskinesias and persistent auditory hallucinations requiring antipsychotics. She underwent bilateral subthalamic nucleus deep brain stimulation (DBS) at age 30 with significant improvement in Parkinsonian features, particularly dystonia and dyskinesias which significantly improved her gait. At 2 years follow-up, UPDRS part 3 scores in the ‘off’ state reduced from 68 pre-operatively to 34 post-operatively and fell to 16 when on both medication and stimulation. Levodopa equivalent daily dosage reduced from 990mg to 245mg currently which contributed to a significant reduction in her auditory hallucinations and intrusive thoughts. Post-operatively, total daily quetiapine dose could be reduced from 100mg to 12.5mg for approximately 18 months but then required further increase to 50mg daily. Early DBS may be advisable in genetically defined, early onset, rapidly progressive Parkinsonism to reduce dependence and functional impairment.