Article
Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa-Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2026
Prasuhn Jannik, van Well Leon, Pokotylo Marta M, Hamami Feline, Aßmann Joke-Lina, Lohmann Katja, Ködderitzsch-Mertins Maximilian G, Henkel Julia, Uter Jan, Münchau Alexander, Klein Christine, Weissbach Anne, Brüggemann Norbert
Abstract excerpt
BACKGROUND: Dopa-responsive dystonia is caused by pathogenic variants in the GCH1 gene. Although its clinical features and reduced penetrance are known, in vivo metabolic and structural alterations in symptomatic (sMC) and asymptomatic mutation carriers (aMC) remain poorly understood. OBJECTIVES: The aims were to characterize the volumetric and neurometabolic brain changes in GCH1 mutation carriers (MC) and...
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