Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia
Objective: To describe a case of a man with pathogenic repeat expansions in both ATXN3 and ATXN10. Background: SCA3 is caused by abnormal polyglutamine repeat…Utility of multigene panel testing for diagnosing parkinsonism and dystonia in a large cohort of >500 patients
Objective: Evaluate the utility of multigene Next-Generation Sequencing (NGS) for molecular diagnosis of parkinsonism and dystonia. Background: Parkinson's disease (PD) and dystonia are common neurodegenerative…KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Objective: Clarifying clinical phenotype, molecular genetic features and evolution with deep brain stimulation (DBS) of KMT2B related disease. Background: Heterozygous mutations in KMT2B are associated…Botulinum Toxin dose optimization in pediatric DYT1 type Focal Hand Dystonia and tremor
Objective: We diagnosed a rare pediatric case of genetic focal hand dystonia (FHD) with dystonic tremor and optimized Onabotulinum Toxin A injection treatment dosing. Background:…Novel GNO1 mutation in monozygotic twins responsive to DBS
Objective: GNAO1 is located on chromosome 16q12.2 and encodes Gα0 subunit of the heterotrimeric guanine-binding protein necessary for neuronal signaling. It is thought that loss-of-function GNAO1…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…Mutation screening and clinical features analysis in patients with early-onset primary dystonia
Objective: In this context, it is important to reveal the mutation frequency of primary dystonia related genes using target dystonia related gene panel among a…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…Frequency and phenotypic spectrum of ANO3 dystonia: A single-center cohort study
Objective: To further clarify the spectrum and frequency of ANO3 rare variants in Chinese populations with primary dystonia. Background: Dystonia is a movement disorder with…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…
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