Dissecting molecular signatures of X-linked dystonia-parkinsonism (XDP) through integrative genomics studies
Objective: To determine the causal locus and functional mechanism associated with XDP using integrative genomics methods in patient-derived and genome-edited induced pluripotent stem cell (iPSC)…Mingo Supplement Trial: An Open-Labeled Randomized-Controlled Trial in X-linked Dystonia-Parkinsonism patients in the Province of Capiz, Philippines
Objective: To see whether increasing the caloric intake of patients by 480 calories per day using a locally sourced food supplement, Mingo, would raise the…Familial SCA2-parkinsonism presented as intractable oromandibular dystonia
Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation. Background: We previously described a Korean…Writing tremor: Should we look for a TOR1A mutation?
Objective: Writing tremor is not always a primary writing tremor but can undermask a dystonia gene-associated tremor. Background: Dystonia gene-associated tremor corresponds to isolated tremor…Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia
Objective: Identification and functional analysis of the disease-causing gene in a family with dominantly inherited cervical dystonia. Background: With the introduction of next generation sequencing…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…
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