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…A case of dystonia-parkinsonism associated with a heterozygous PRKRA (DYT16) gene mutation
Objective: We describe the clinical presentation, diagnosis, and treatment of a case of dystonia-parkinsonism associated with a heterozygous mutation in the initiator methionine of the…Multimodal, longitudinal investigation in Dopa-responsive dystonia
Objective: To perform a detailed longitudinal clinical and neurophysiological investigation in monogenic Dopa-responsive dystonia (DRD) patients with mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.