Article (Scientific journals)
Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.
Hanci, Idil; Kamm, Christoph; Scholten, Marlieke et al.
2018In Frontiers in Neurology, 9, p. 381
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Keywords :
deep brain stimulation (DBS); dystonia; globus pallidus internus (GPi); glucose transporter type 1 (GLUT1); glucose transporter type-1 deficiency syndrome (GLUT1-DS)
Abstract :
[en] Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing "stimulation off" and "stimulation on" despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS). This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.
Disciplines :
Author, co-author :
Hanci, Idil
Kamm, Christoph
Scholten, Marlieke
Roncoroni, Lorenzo P.
Weber, Yvonne
Krüger, Rejko ;  University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit
Plewnia, Christian
Gharabaghi, Alireza
Weiss, Daniel
External co-authors :
Language :
Title :
Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.
Publication date :
Journal title :
Frontiers in Neurology
Publisher :
Frontiers Media S.A., Switzerland
Volume :
Pages :
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 30 July 2018


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