Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

TL;DR

This study demonstrates that deep brain stimulation provides long-term symptom relief in DYT1 dystonia patients, with some experiencing symptom worsening over time that can be mitigated by additional leads.

Contribution

It provides the first long-term follow-up data showing sustained efficacy of GPi DBS in DYT1 dystonia and explores the effects of additional leads on symptom management.

Findings

Significant symptom reduction maintained up to 10 years.

Worsening symptoms in some patients can improve with additional leads.

Long-term DBS reduces the number of affected body regions.

Abstract

Long-term efficacy of internal globus pallidus (GPi) deep-brain stimulation (DBS) in DYT1 dystonia and disease progression under DBS was studied. Twenty-six patients of this open-label study were divided into two groups: (A) with single bilateral GPi lead, (B) with a second bilateral GPi lead implanted owning to subsequent worsening of symptomatology. Dystonia was assessed with the Burke Scale. Appearance of new symptoms and distribution according to body region were recorded. In the whole cohort, significant decreases in motor and disability subscores (P < 0.0001) were observed at 1 year and maintained up to 10 years. Group B showed worsening of the symptoms. At 1 year, there were no significant differences between Groups A (without subsequent worsening) and B; at 5 years, a significant difference was found for motor and disability scores. Within Group B, four patients exhibited additional improvement after the second DBS surgery. In the 26 patients, significant difference (P = 0.001) was found between the number of body regions affected by dystonia preoperatively and over the whole follow-up. DBS efficacy in DYT1 dystonia can be maintained up to 10 years (two patients). New symptoms appear with long-term follow-up and may improve with additional leads in a subgroup of patients.