Intrafamilial Phenotypic Diversity Associated with Coexisting LRRK2 G2385R and a Novel GCH1 Variant: A Case Report
Objective: To describe intrafamilial phenotypic variability associated with the coexisting LRRK2 G2385R and a novel GCH1 variant in a family presenting with parkinsonism and dystonia…THD (Tyrosine Hydroxylase Deficiency) in a 39-Year-Old Woman with Early-Onset Dystonia
Objective: To report a case of tyrosine hydroxylase deficiency (THD), a rare neurometabolic disorder that disrupts catecholamine biosynthesis. This case report highlights common neurologic abnormalities,…Intra-familial phenotypic variability in a novel Autosomal dominant GCH1 variant
Objective: To report a family with a novel variant of the GCH1 gene presenting as early-onset DOPA-responsive dystonia (DRD) and late-onset Parkinson’s disease. Background: Autosomal…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…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…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:…
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