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@ARTICLE{Brggemann:137808,
author = {Brüggemann, Norbert and Kühn, Andrea and Schneider,
Susanne A and Kamm, Christoph and Wolters, Alexander and
Krause, Patricia and Moro, Elena and Steigerwald, Frank and
Wittstock, Matthias and Tronnier, Volker and Lozano, Andres
M and Hamani, Clement and Poon, Yu-Yan and Zittel, Simone
and Wächter, Tobias and Deuschl, Günther and Krüger,
Rejko and Kupsch, Andreas and Münchau, Alexander and
Lohmann, Katja and Volkmann, Jens and Klein, Christine},
title = {{S}hort- and long-term outcome of chronic pallidal
neurostimulation in monogenic isolated dystonia.},
journal = {Neurology},
volume = {84},
number = {9},
issn = {0028-3878},
address = {[S.l.]},
publisher = {Ovid},
reportid = {DZNE-2020-04130},
pages = {895-903},
year = {2015},
abstract = {Deep brain stimulation of the internal pallidum (GPi-DBS)
is an established therapeutic option in treatment-refractory
dystonia, and the identification of factors predicting
surgical outcome is needed to optimize patient selection.In
this retrospective multicenter study, GPi-DBS outcome of 8
patients with DYT6, 9 with DYT1, and 38 with isolated
dystonia without known monogenic cause (non-DYT) was
assessed at early (1-16 months) and late (22-92 months)
follow-up using Burke-Fahn-Marsden Dystonia Rating Scale
(BFMDRS) scores.At early follow-up, mean reduction of
dystonia severity was greater in patients with DYT1 (BFMDRS
score: $-60\%)$ and non-DYT dystonia $(-52\%)$ than in
patients with DYT6 dystonia $(-32\%;$ p = 0.046).
Accordingly, the rate of responders was considerably lower
in the latter group $(57\%$ vs $>90\%;$ p = 0.017). At late
follow-up, however, GPi-DBS resulted in comparable
improvement in all 3 groups (DYT6, $-42\%;$ DYT1, -44;
non-DYT, $-61\%).$ Additional DBS of the same or another
brain target was performed in 3 of 8 patients with DYT6
dystonia with varying results. Regardless of the genotype,
patients with a shorter duration from onset of dystonia to
surgery had better control of dystonia
postoperatively.Long-term GPi-DBS is effective in patients
with DYT6, DYT1, and non-DYT dystonia. However, the effect
of DBS appears to be less predictable in patients with DYT6,
suggesting that pre-DBS genetic testing and counseling for
known dystonia gene mutations may be indicated. GPi-DBS
should probably be considered earlier in the disease
course.This study provides Class IV evidence that long-term
GPi-DBS improves dystonia in patients with DYT1, DYT6, and
non-DYT dystonia.},
keywords = {Adolescent / Adult / Child / Child, Preschool / Deep Brain
Stimulation: methods / Deep Brain Stimulation: trends /
Dystonia: diagnosis / Dystonia: therapy / Electrodes,
Implanted / Female / Follow-Up Studies / Globus Pallidus:
physiopathology / Humans / Male / Middle Aged /
Retrospective Studies / Treatment Outcome / Young Adult},
cin = {Ext UKT / AG Gasser 1},
ddc = {610},
cid = {I:(DE-2719)5000058 / I:(DE-2719)1210000},
pnm = {345 - Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25653290},
pmc = {pmc:PMC6170184},
doi = {10.1212/WNL.0000000000001312},
url = {https://pub.dzne.de/record/137808},
}