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…A case of generalized early-onset dystonia with a novel low-penetrant THAP1 missense variant
Objective: To present a new case with generalized dystonia carrying a novel heterozygous likely pathogenic THAP1 variant associated with reduced penetrance Background: Dystonia is a…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…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…Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia-parkinsonism
Objective: To report two patients with early-onset dystonia-parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2 (NR4A2). Background:…
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