Alterations of NAD metabolism in symptomatic and asymptomatic carriers of pathogenic GCH1 variant
Objective: To investigate whether carriers of pathogenic GCH1 variant reveal lower NAD levels in the basal ganglia or the cerebellum compared to variant-free controls. Background:…Identification of Compound Heterozygous and Novel Deep-Intronic TH Mutations in a Chinese Patient with Dopa-Responsive Dystonia
Objective: This study aims to delineate the genetic underpinnings of a case affected by dopa-responsive dystonia (DRD), characterized by novel compound heterozygous mutations within the…Autosomal Recessive GTPCH Deficiency: Redefining the Phenotypic Spectrum and Outcome
Objective: To describe the clinical phenotype of autosomal recessive GTP cyclohydrolase deficiency (ARGTPCHD), its genetic and metabolic correlates, and their possible predictive value through a…Startle Reflex in CTNNB1 Mutations: A diagnostic Clue
Objective: To describe two patients with CTNNB1 mutation with a startle reflex, an underrecognised clinical sign. Background: CTNNB1 mutations is an increasingly recognised cause of…Understanding neuropsychological features of dopa responsive dystonia in children
Objective: To describe the neuropsychological features in five siblings with dopa responsive dystonia (DRD) due to autosomal dominant GCH1 related disease (AD GCH1). Background: Although…Functional movement disorders in dopa-responsive dystonia – A case series with implications for diagnosis and treatment
Objective: A detailed clinical characterization of functional movement disorders (FMD) in dopa-responsive dystonia (DRD) patients. Background: FMD are one of the most common conditions in…A Novel Mutation of GCH1 Gene in a Case of Dopa-responsive Dystonia with Oculogyric Crises
Objective: To report a patient with a novel mutation of GCH1 gene presenting as dopa-responsive dystonia (DRD), parkinsonism, and oculogyric crises (OGC) Background: Autosomal dominant…Sisters with a novel compound heterozygous mutation in GCH1 gene linked to dopa responsive dystonia
Objective: Objective: Two sisters with a diagnosis of dopa-responsive dystonia (DRD) with a new mutation are reported. Background: Background: GTP cyclohydrolase I (GCH1) mutations are…Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management
Objective: To describe the clinical features and treatment response of two Peruvian patients with GHC1 dopa responsive dystonia diagnosed by whole genome sequencing. Background: Pathogenic variants in…MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…
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