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…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.…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…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…
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