High dose of levodopa and Segawa disease
Objective: To analyze the dose-dependent effects of levodopa on the symptoms of the disease in our case. Background: In 1976, Segawa et al. reported dopa-responsive…Phenotypic Heterogeneity and Variability of Nigrostriatal Dopaminergic Function in a Dopa-Responsive Dystonia
Objective: To evaluate presynaptic nigrostriatal dopaminergic function in a Dopa-responsive dystonia (DRD) family with guanosine triphosphate cyclohydrolase 1 (GCH-1) mutation. Background: Mutation of GCH-1 located…Neuropathology of dopa-responsive dystonia due to Tyrosine hydroxylase deficiency
Objective: To describe detailed neuropathology findings from an autopsy case of dopa-responsive dystonia (DRD) with genetically confirmed tyrosine hydroxylase deficiency (THD). Background: DRD comprises a…Molecular mechanisms of GCH1-associated Parkinson’s disease
Objective: To unravel the molecular mechanisms by which loss of GCH1 function enhances the risk of Parkinson´s disease (PD). Background: Loss-of-function mutations in GCH1 are…An unusual presentation of tyrosine hydroxylase deficiency
Objective: To discuss a case of tyrosine hydroxylase deficiency presenting with resolution of symptoms on levodopa except for a dynamic segmental dystonia Background: Dopa-responsive dystonia…Substantial psychiatric symptoms, sleep disturbances and reduced quality of life in well-treated adult patients with GTP-cyclohydrolase deficient dopa-responsive dystonia
Objective: The aim of this study was to systematically investigate the prevalence of psychiatric disorders, sleep problems and health-related quality of life (HRQoL) in patients…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…Functional characterization of the upstream start codon in the GCH1 gene
Objective: To examine (1) the -22C > T point mutation which introduces a premature start codon upstream of the normal open reading frame (ORF) of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.