Metabolic and volumetric alterations in the basal ganglia and the cerebellum in dopa-responsive dystonia in symptomatic and asymptomatic GCH1 mutation carriers

2026-01-28 neurology Title + abstract only

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BackgroundDopa-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. ObjectivesTo characterize volumetric and neurometabolic brain changes of GCH1 mutation carriers and explore their relationship with clinical severity. MethodsWe studied 20 sMC, 5 aMC, and 25 mutation-free healthy c...

Metabolic and volumetric alterations in the basal ganglia and the cerebellum in dopa-responsive dystonia in symptomatic and asymptomatic GCH1 mutation carriers

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