Abstract
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults. Predictive factors for the degree of improvement after GPi DBS include shorter disease duration and dystonia subtype with idiopathic isolated dystonia usually responding better than acquired combined dystonias. Other factors contributing to variability in outcome may include body distribution, pattern of dystonia and DBS related factors such as lead placement and stimulation parameters. The responsiveness to DBS appears to vary between different monogenic forms of dystonia, with some improving more than others. The first observation in this regard was reports of superior DBS outcomes in DYT-TOR1A (DYT1) dystonia, although other studies have found no difference. Recently a subgroup with young onset DYT-TOR1A, more rapid progression and secondary worsening after effective GPi DBS, has been described. Myoclonus dystonia due to DYT-SCGE (DYT11) usually responds well to GPi DBS. Good outcomes following GPi DBS have also been documented in X-linked dystonia Parkinsonism (DYT3). In contrast, poorer, more variable DBS outcomes have been reported in DYT-THAP1 (DYT6) including a recent larger series. The outcome of GPi DBS in other monogenic isolated and combined dystonias including DYT-GNAL (DYT25), DYT-KMT2B (DYT28), DYT-ATP1A3 (DYT12), and DYT-ANO3 (DYT24) have been reported with varying results in smaller numbers of patients. In this article the available evidence for long term GPi DBS outcome between different genetic dystonias is reviewed to reappraise popular perceptions of expected outcomes and revisit whether genetic diagnosis may assist in predicting DBS outcome.
Highlights
Dystonia is a chronic neurological condition characterized by sustained or intermittent muscle contractions resulting in abnormal movements, postures and tremor [1, 2]
The potency and versatility of Globus pallidus internus deep brain stimulation (GPi deep brain stimulation (DBS)) has encouraged its use in an expanding range of medically refractory genetic dystonias with varying degrees of success
In this article we review available information for the effectiveness of Globus pallidus internus (GPi) DBS in dystonia due to various causative genes in an effort to stratify whether genetic diagnosis may offer some assistance in predicting the DBS treatment outcome
Summary
Dystonia is a chronic neurological condition characterized by sustained or intermittent muscle contractions resulting in abnormal movements, postures and tremor [1, 2]. Longer term studies of GPi DBS in DYT1 have shown sustained benefit for up to 10 years [34] including a large study of 47 DYT1 patients treated with GPi DBS which reported average long-term improvement approaching 80% [35].
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