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…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Genotype-phenotype relations for the isolated Dystonia Genes TOR1A, THAP1, GNAL, ANO3, KMT2B, PRKRA and HPCA: MDSGene Systematic Review
Objective: To systematically review genotypes and phenotypes of monogenic isolated dystonia. Background: The Movement Disorder Society Genetic mutation database (MDSGene at www.mdsgene.org) provides an overview…A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in patients of Wilson Disease-a population based study in a tertiary care institute in eastern India
Objective: The present study was aimed at exploring the mutation profile of Eastern Indian Wilson’s Disease (WD) patients and analyzing the effect of mutations by…A novel heterozygous ANO3 mutation responsible for myoclonus-dystonia
Objective: We present a family carrying ANO3 mutation and exhibiting a myoclonus-dystonia and tremor phenotype. Background: Mutations of Anoctamine 3 gene (ANO3) are a rare…Rapidly onset progressive generalised dystonia parkinsonism in a young Indian male with rare FBXO 7 genetic mutation
Objective: To describe a rare case of rapidly progressive generalized dystonia parkinsonism due to FBXO7 gene mutation. Background: Parkinson’s disease is a neurodegenerative disorder of…Two Patients with Dopamine Transporter Deficiency Treated with Deep Brain Stimulation
Objective: Dopamine transporter deficiency syndrome (DTDS,) a rare disease characterized by infantile –onset progressive dystonia, has no established treatment guidelines. Treatment is generally predicated on…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Genetic and clinical investigation of young onset dystonia in Korea: What can we learn?
Objective: In this study, we performed whole exome sequencing (WES) in Korean patients with young-onset dystonia, and investigated important factors associated with WES in dystonia.…Associations of Genetic, Epigenetic and Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: To explore relationships between demographic, clinical and behavioral phenotypes and underlying genetic and epigenetic features, utilizing a large cohort of PKAN patients. Background: PKAN…
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