Objective: The role of subthalamic nucleus – deep brain stimulation (STN-DBS) is well established in medically refractory Parkinson’s disease. But the efficacy of DBS surgery in SCA2 patients presenting as Parkinson’s disease still remains unclear. Thus we want to report on our spinocerebellar ataxia type 2 (SCA2) patient with motor fluctuation and dyskinesia. DBS surgery was quite effective for controlling her motor complication, unlike known results of DBS studies so far.

Background: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease. Its typical phenotype is a progressive ataxic syndrome, but patients with pure parkinsonism without ataxia were also reported. Some of them had motor fluctuation and dyskinesia similar to Parkinson’s disease (PD).

Methods: We report on a woman with pure parkinsonian features, motor fluctuation, and dyskinesia which were severe enough to warrant bilateral subthalamic – deep brain stimulation (STN-DBS) surgery. Her onset age was 39 years old and diagnosis of PD was made at age 40. Parkinsonism was quite responsive to medications for 20 years without motor complication. Motor fluctuation and dyskinesia developed at age 60 years. She was referred to us at age 63 years. Medication adjustment including liquid dopa failed to adequately control her motor complications. Thus, STN-DBS was done at age 65.

Results: Preop UPDRS part 3 score was 26 while on and 73 while off. Dyskinesia severity was 2. Her postoperative outcome was quite good. UPDRS part 3 score at 6 months was 23 while Medication-on/DBS-on, and 36 while Medication-off/DBS-on. LEDD was decreased to 425mg/day from 1510 mg/day preoperatively. Her elder brother had PD. Thus the gene study was done, which showed CAG repeat expansion of 36 in her SCA2 gene.

Conclusions: This case shows that SCA2 can presents not only with pure parkinsonism but also with severe motor fluctuation and dyskinesia necessitating STN-DBS, thus may give a rationale for testing SCA2 in certain ethnic group prior to DBS especially with family history. Long-term surgical prognosis needs to be followed up even though short-term follow-up was quite favorable.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-in-a-patient-with-spinocerebellar-ataxia-type-2-presenting-as-parkinsons-disease-a-case-report/