Decreased blood beta-Glucosidase activity and GBA mutations in Dystonia
Objective: To report on the observation of decreased levels of GCase in peripheral blood in patients presenting with dystonia without signs of parkinsonism. Background: Glucocerebrosidase…Novel missense variants in KMT2B in segmental dystonia
Objective: To report and describe two novel missense mutations in KMT2B identified in two dystonia patients from China. Background: Recently, two independent groups have reported…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…Clinical and genetics characterization of patients with Myoclonus Dystonia Syndrome
Objective: To characterize clinically and genetically a series of 23 patients with myoclonus dystonia syndrome (MDS) and to explore the Unified Myoclonus Rating Scale (UMRS)…Cohort profile of the Japan Dystonia Consortium: Genetic diagnosis and characteristics of movement disorders in Japan
Objective: To reveal molecular epidemiology of hereditary dystonia through resequencing of the currently-known dystonia genes and identification of novel genetic defects. Background: The Japan Dystonia…Genetic defects causing complex movement disorders and basal ganglia degeneration in childhood
Objective: To characterize genotype–phenotype correlations in basal ganglia degeneration (BGD) in childhood. Background: BGD in childhood causes movement disorders, neurodevelopmental dysfunction and long-lasting severe disability.…Analysis of gene polymorphisms of Parkinson’s disease in Han Chinese population
Objective: Sequencing of Parkinson Disease（PD) genes were used in our research in order to study the polymorphism of PD related genes of Chinese Han people.…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…Bilateral subthalamic deep brain stimulation combined with thalamotomy for PRRT2-associated generalized dystonia: A case report
Objective: To investigate the efficacy of deep brain stimulation (DBS) and thalamotomy on symptoms improvement in a case of PRRT2-associated childhood-onset generalized dystonia. This would…Globus pallidus deep brain stimulation (GPi-DBS) in one patient with complex early-onset dystonia and KMT2B mutation: A case report
Objective: To assess long term results of GPi-DBS in one patient with generalized dystonia with KMT2B mutation. Background: Mutations in heterozygosis of the KMT2B gene,…
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