Clinical and genetic characteristics of a new mutation causing Segawa´s disease in a Spanish kindred
Objective: To describe the clinical phenotype and genetic characteristics of a novel mutation causing Segawa´s disease in a Spanish family. Background: Dopa-Responsive Dystonia (DRD) is…Pregnancy and Delivery Complications in Women with Inherited Isolated Dystonia
Objective: To determine whether female mutation carriers of inherited dopa-responsive (DRD) and DYT/TOR1A genes had higher pregnancy and delivery complications than non-carriers Background: Women with…Atypical presentation of Dopa-responsive dystonia- late onset with severe swallowing difficulty
Objective: To learn about atypical presentation of Dopa-responsive dystonia (DRD) and give correct diagnose in time. Background: DRD compasses a group of clinically and genetically…[11 C] DASB PET imaging in dopa-responsive dystonia patients: The role of serotonin in motor and non-motor symptoms
Objective: To assess the non-displaceable binding potential (BPND) of the serotonin transporter (SERT) in dopa-responsive dystonia (DRD) patients and to determine if an altered BPND…The use of gliatilin in the complex treatment of vascular parkinsonism
Objective: In recent decades, as a result of increasing the life expectancy of the population, the number of patients with Parkinsonism has increased, which leads…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.