MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…A case of dystonia-parkinsonism associated with a heterozygous PRKRA (DYT16) gene mutation
Objective: We describe the clinical presentation, diagnosis, and treatment of a case of dystonia-parkinsonism associated with a heterozygous mutation in the initiator methionine of the…The clinical features, treatments and genetic characteristics in Chinese children with dopa-responsive dystonia
Objective: To investigate the clinical manifestations, treatment and genetic characteristics of dopa-responsive dystonia (DRD). Background: Dopa-responsive dystonia (DRD) is resulted by variants of GCH1, TH and SPR. There…Recent Clinical variation of Segawa Disease in Japan
Objective: To analyze clinical phenotype of recent variation of Segawa disease（GCHⅠ deficiency, DYT5a）in Japan. Background: Segawa Disease（SD）is major dystonia in children found by Prof.Masaya Segawa…Genetic testing in pediatric dystonia and influence of clinical factors on diagnostic yield
Objective: To identify the yield of genetic testing in suspected genetically determined pediatric dystonia. Identify differences in clinical factors among patients with confirmatory and non-confirmatory…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.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.