30-year Delayed Diagnosis of Juvenile Parkinson’s Disease in a Patient Misdiagnosed with Dopa-responsive Dystonia
Objective: To report a case of Juvenile Parkinson’s Disease (JP) misdiagnosed as dopa-responsive dystonia (DRD) and to emphasize the importance of early genetic testing in…When Dystonia mimics Multiple Sclerosis : A Familial case series of GCH1 misdiagnosis
Objective: To describe phenotypic variability associated with a GCH1 mutation and increase clinical suspicion in patients with atypical phenotypes. Background: Dopa-responsive dystonia (DRD) is a genetic disorder most commonly…Novel presentation of PRRT2 with paroxysmal dystonia and responsive to carbidopa/levodopa.
Objective: Present a novel case of PRRT2 positive PKD presenting with paroxysmal dystonia that responded to treatment with carbidopa levodopa. First report in the literature.…Tyrosine Hydroxylase Deficiency and Absence Epilepsy: An Association or Mere Coincidence?
Objective: To explore the possible relationship between tyrosine hydroxylase deficiency (THD) and absence epilepsy, with a specific focus on the role of dopamine in the…National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…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…
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