A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa
Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…Late-Onset Dopa-Responsive Dystonia: A Case Report
Objective: To present a rare cause of treatable dystonia with onset during adulthood. Background: L-Dopa-responsive dystonia is an inherited disorder characterized by early-onset dystonia affecting…Different clinical entities of Segawa syndrome within a family
Objective: We report two cases of mother and daughter, both having different expressions of dystonic movements. Background: One of rare dystonic disorders is Segawa syndrome…Spectrum of parkinsonian phenotypes associated with GCH1 mutation.
Objective: To describe the heterogeneity of parkinsonism in patients with GCH1 mutations. Background: Dopa-responsive dystonia (DRD) is an inherited disorder that responds dramatically to levodopa…PRKN Positive Parkinson’s Disease Masked as Dopa-Responsive Dystonia
Objective: To report a Parkinson’s disease (PD) patient with PRKN mutation initially diagnosed with dopa-responsive dystonia (DRD), unmasked after developing signs of parkinsonian disease progression.…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.