Deep stimulation of the globus pallidus improved clinical symptoms in a patient with refractory parkinsonism and genetic mutation

New York doctors published a case study of a young woman with a progressively developing gait disorder and lower limb spasticity in the journal JAMA Neurology. She also developed other parkinsonian symptoms, such as tremors and dystonia, which gradually worsened despite treatment with carbidopa and levodopa. These symptoms fluctuated throughout the day, and the effect of the medications was only short-term. Genetic testing revealed a mutation in the SPG11 gene on chromosome 15.

Course and Outcome of Treatment

The patient underwent bilateral deep stimulation of the globus pallidus, and dystonia, dyskinesia, and tremor disappeared. Thirty months after the stimulation, she showed an 80% improvement in the UPDRS score (Unified Parkinson’s Disease Rating Scale). The improvement in symptoms persisted for another 2 years and half of the third year. The deep stimulation was well tolerated, with no complications in terms of cognitive adverse effects. However, the spasticity of the lower limbs was not affected and gradually worsened.

Conclusion

This publication is unique as it is the first case of electrical brain stimulation for this off-label indication. According to the lead author, Dr. Ramirez-Zamora, the long-term benefit of the deep brain stimulation method is demonstrated, preceding complications associated with medication, thus leading to reduced treatment costs. The same issue of JAMA Neurology also features a study by Rossi and colleagues, who retrospectively evaluated data on deep brain stimulation for off-label indications (including Tourette syndrome, Alzheimer's disease, and obsessive-compulsive disorder) performed over ten years at a university center.

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Sources:

1. Ramirez-Zamora A., Gee L., Youn Y. et al. Pallidal deep brain stimulation for the treatment of levodopa-responsive juvenile dystonia and parkinsonism secondary to SPG11 mutation. JAMA Neurol 2017; 74 (1): 127−128, doi: 10.1001/jamaneurol.2016.4297.
2. Anderson P. Patient with parkinsonism, gene mutation improved with DBS. Medscape Medical News − Neurology 2016 Nov 22. Available at: www.medscape.com/viewarticle/872283
3. Rosssi P. J., Giordano J., Okun M. S. The problem of funding off-label deep brain stimulation: bait-and-switch tactics and the need for policy reform. JAMA Neurol 2017; 74 (1): 9−10, doi: 10.1001/jamaneurol.2016.2530.