Erschienen in:
05.02.2022 | Letter to the Editor
A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation
verfasst von:
Gloria Rožmarić, Mario Hero, Valentino Rački, Vladimira Vuletić, Darko Chudy, Borut Peterlin
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 2/2023
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Excerpt
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions, causing abnormal involuntary movements or postures [
1]. Although many forms of dystonia are still classified as idiopathic, two principal etiologies are identified: inherited genetic alterations and acquired specific causes [
2]. The most common genetic causes of dystonia are
TOR1A,
THAP1,
GCH1, and
KMT2B mutations, but only a handful of cases have been reported with a guanine nucleotide-binding protein, beta 1 (
GNB1) mutation [
2]. To the best of our knowledge, this is the first described case of a pathogenic variant c.352G > C, p.(Asp118His) in the
GNB1 gene and also only the second documented patient with
GNB1 dystonia undergoing deep brain stimulation (DBS) [
3]. …