Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Jan 8:11:630391.
doi: 10.3389/fneur.2020.630391. eCollection 2020.

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Stephen Tisch  1 , Kishore Raj Kumar  2   3
Affiliations
Review

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Stephen Tisch et al. Front Neurol. .

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.

Keywords: deep brain stimulation; dystonia; gene; globus pallidus internus; monogenic; mutation; pallidal.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Major monogenic forms of dystonia categorized according to evidence of response to deep brain stimulation.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Fahn S. Concept and classification of dystonia. Adv Neurol. (1988) 50:1–8. 10.1212/WNL.50.5_Suppl_5.S1 - DOI - PubMed
    1. Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. . Phenomenology and classification of dystonia: a consensus update. Mov Disord. (2013) 28:863–73. 10.1002/mds.25475 - DOI - PMC - PubMed
    1. Coubes P, Roubertie A, Vayssiere N, Hemm S, Echenne B. Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus. Lancet. (2000) 355:2220–1. 10.1016/S0140-6736(00)02410-7 - DOI - PubMed
    1. Coubes P, Cif L, El Fertit H, Hemm S, Vayssiere N, Serrat S, et al. . Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg. (2004) 101:189–94. 10.3171/jns.2004.101.2.0189 - DOI - PubMed
    1. Vidailhet M, Vercueil L, Houeto JL, Krystkowiak P, Benabid AL, Cornu P, et al. . Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia. N Engl J Med. (2005) 352:459–67. 10.1056/NEJMoa042187 - DOI - PubMed