Deep Brain Stimulation in a Case of Mitochondrial Disease

Abstract

Background DBS has proven to be an effective therapy for Parkinson's disease, essential tremor, and primary dystonia. Mixed results have been reported in case series for other hyperkinetic disorders, and sparse data are available regarding secondary movement disorders. We report on the clinical effects of bilateral globus pallidus internus (GPi) DBS, a progressive mitochondrial cytopathy. Methods A single patient with myoclonus and dystonia syndrome secondary to a mitochondrial cytopathy with history of perinatal hypoxia was identified from our University of Florida DBS database. Demographics, clinical, surgical, and DBS data were documented. Results At 6 months post‐DBS, we observed a 32% (361 to 527) improvement on quality of life (36‐item Medical Outcome Study Short‐Form Health Survey; SF‐36). Objective clinical scales revealed a 33% (143 to 96) improvement in the Unified Myoclonus Rating Scale (UMRS) total score. The UMRS action myoclonus subsection revealed a 29% (69 to 46) improvement. No significant changes were observed in the Burke‐Fahn‐Mardsen Dystonia Rating Scale (BFMDRS). After 1‐year follow‐up, a worsening of 59% (527 to 215) was observed in the SF‐36 scale, of 19% (28.5 to 35) in the BFMDRS, and of 23% (96 to 124) in the UMRS. However, the frequency and intensity of action myoclonus scores remained lower when compared to baseline scores. Conclusions Although we observed a loss of benefit in the long term for most quality‐of‐life and clinical outcomes, the DBS effects on action myoclonus seemed to remain stable. Longer follow‐up studies are necessary to confirm our short‐term and unblinded findings.

Mitochondrial abnormalities in Parkinson's disease and Alzheimer's disease: can mitochondria be targeted therapeutically?

“…An immediate therapeutic effect was found with DBS treatment of a patient with mitochondrial encephalopathy which remained stable for three years [199] . Martinez-Ramirez et al (2016) reported a case of DBS treatment on a patient with a biopsy proven complex I deficiency suffering from myoclonus and dystonia [200] . The effect of the DBS treatment was immediate, with symptoms being improved six months after DBS, however, a regression was observed 12 months post-DBS.…”

Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome

“…Although there are no current reports of neuromodulatory intervention in children with MEPAN syndrome, the efficacy of GPi-DBS has been reported for movement disorders in other degenerative neurometabolic conditions such as PKAN and mitochondrial disorders (19,26,(46)(47)(48). GPi-DBS showed moderate efficacy in atypical PKAN, variable benefits in typical PKAN (19), and mixed effects in mitochondrial disease (26,(46)(47)(48). However, GPi-DBS may be less effective in cases of dystonia that present with structural abnormalities and will not affect the progression of the underlying metabolic condition.…”

Deep brain stimulation in a pediatric dystonia patient with cochlear implants and mitochondrial disorder: novel application of a frameless stereotactic system and navigating the anesthesia choice and neurosurgical complexities. Illustrative case

“… 16 The optimal stimulation target, specifically with regard to mitochondrial disorders, has yet to be elucidated. 26 Typical targeting techniques are awake with MERs or asleep without MERs but with anatomical targeting. In our patient, her young age and high anxiety prevented us from performing awake surgery.…”