Article

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

2026-01-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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. <h4>Objectives</h4> To characterize volumetric and neurometabolic brain changes of GCH1 mutation c...

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Literature Corpus work: dfb1e5e2-c303-59d7-b5c7-ab4bd3a9e587
DOI: 10.64898/2026.01.23.26344694

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