Phenotypic segregation in kindred with a novel ANO3 variant
Objective: To describe the phenotypic and genotypic presentation of a kindred with a novel ANO3 mutation. Background: Mutations in ANO3 gene cause an autosomal dominant…Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
Objective: Our study aimed at developing a targeted sequencing approach using a customized panel of genes involved in movement disorders (MDs). Background: MDs are characterized…Correlation of Retinal Nerve Fiber Layer Thickness and X-Linked Dystonia Parkinsonism Measured by Spectral-Domain Optical Coherence Tomography
Objective: This is a pilot study aimed to determine the association of the Retinal Nerve Fiber Layer (RNFL) thickness with X-Linked Parkinsonism Disease patients using…The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women
Objective: To investigate whether the combination of the X-linked dystonia-parkinsonism (XDP) haplotype and skewed X-chromosome inactivation (XCI) underlies the penetrance of XDP in women. Background:…Myoclonus-Dystonia Syndrome Due to a Novel Mutation in the Epsilon-Sarcoglycan (SGCE) Gene
Objective: To present a case report of a patient with myoclonus-dystonia in whom a mutation in the epsilon-sarcoglycan gene which has not been previously described,…High rate of mutations in complex dystonia revealed by exome sequencing
Objective: This study aimed at identifying the missing genetic causes in dystonia without diagnosis following movement disorders gene panel sequencing. Background: Dystonia aetiologies are highly…GNAO1 gene mutation: generalized dystonia without epilepsy.
Objective: GNAO1 gene mutation is considered in the differential diagnosis of early onset epileptic encephalopathies (EOEE) with movement disorders. De novo GNAO1 mutations were first…Hereditary spastic paraplegia presenting as limb dystonia with a novel SPG7 mutation
Objective: We present a case of a patient who presented with limb dystonia and was found to have HSP associated with a previously unreported compound…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Targeted Next Generation Sequencing in Diagnosis of Dystonia Patients
Objective: To assess the effectiveness of the targeted next generation sequencing in dystonia patients in China. Background: Dystonia is a movement disorder with high clinical…
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