Phenotypic variability and extreme age of presentation of GCH1 gene mutation in dopa-responsive dystonia
Objective: To highlight the wide phenotypical variability among GCH1 gene mutation carriers and the importance of molecular work-up and establishing genotype-phenotype correlations in GCH1 related…Biallelic ZNF142-null mutations in patients with early-onset generalized dystonia
Objective: To identify a novel genetic factor contributing to the phenotypic expression of early-onset generalized dystonia. Background: To date, only about 20-30% of cases with…TPK1 mutation induced childhood onset dystonia and dyskinesia
Objective: To describe the clinical manifestation of a patient with TPK1 mutation. Background: A number of defects in thiamine metabolism are reported to cause various childhood…Prospective Characterization of Genetically Confirmed X-linked Dystonia Parkinsonism Patients and their Families: A 1 year longitudinal feasibility study
Objective: A one year feasibility study for a planned prospective longitudinal study of X-linked Dystonia-Parkinsonism patients and their families in rural Philippines. Background: X-linked dystonia…Assessment, identification and classification of movement disorders in 22q11.2 deletion syndrome
Objective: To assess the nature and frequency of movement disorders in children with molecularly confirmed 22q11.2 Deletion Syndrome. Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a…Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?
Objective: To investigate the impact of the hexanucleotide repeat within the X-linked dystonia-parkinsonism-associated haplotype on endogenous TAF1expression. Background: X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative movement…Expression analysis of candidate genes in a cell model of affected and unaffected THAP1 mutation carriers and controls
Objective: To evaluate the role of expressional changes in carriers of a THAP1 mutation in relation to penetrance of dystonia. Background: THAP1 encodes a transcription…TUBB4A mutation: Expansion of H-ABC phenotype with apparent iron accumulation in the basal ganglia – case report and literature review
Objective: This case report expand the phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum. Background: Background: Hypomyelination with atrophy of the basal ganglia…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…Stimulus-induced paroxysmal cranial dyskinesia and Nail Patella Syndrome in a multigenerational family with a novel mutation in the LMX1B gene
Objective: To perform a genetic linkage study with the aim to identify the cause of dyskinesia in a large family with affected members in several…
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