ArticleMovement disorders : official journal of the Movement Disorder Society2026
Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa-Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers.
Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
objectivesThe aims were to characterize the volumetric and neurometabolic brain changes in GCH1 mutation carriers (MC) and explore their relationship with clinical severity.
methodsWe studied 20 sMCs, 5 aMCs, and 25 mutation-free healthy controls (HC) using volumetric magnetic resonance imaging (MRI) combined with
resultsVolumetric analyses revealed enlarged globus pallidus (16.6%, P = 0.0010) and putamen (7.2%, P = 0.0310) volumes in sMCs and increased cerebellar gray matter in aMCs (8.0%, P = 0.0500). Nicotinamide adenine dinucleotide (NAD) levels were significantly reduced in the basal ganglia of carriers (NAD/Pi [inorganic phosphate]: -14.7%, P = 0.0460; NAD/ATP-α: -15.5%, P = 0.0180). In the cerebellum, aMCs demonstrated elevated high-energy phosphate ratios ([ATP-α + PCr]/Pi: 23.7%, P = 0.0170; ATP-α/Pi: 21.3%, P = 0.0460; PCr [phosphocreatine]/Pi: 25.2%, P = 0.0090) compared with sMCs and HCs. Smaller cerebellar volumes correlated with greater dystonia severity (Burke-Fahn-Marsden Dystonia Rating Scale, ρ = -0.557, P = 0.0133), whereas lower basal ganglia NAD ratios correlated with higher Movement Disorder Society-Unified Parkinson's Disease Rating Scale, Part III (ρ = -0.527, P = 0.0204), and Toronto Western Spasmodic Torticollis Rating Scale scores (ρ = -0.475, P = 0.0398).
conclusionsVolumetric MRI and
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