PHENOTYPIC DESCRIPTION OF TWO UNREPORTED FAMILIES WITH ANO3 DYSTONIA
Objective: This is the phenotypic description of two families affected by hereditary dystonia associated to gene ANO3 mutation (DYT24), one with a heterozygous verisimilarly pathogenic…Clinical, imaging and genetic profile of patients with NBIA spectrum disorders
Objective: To describe the clinical, imaging and genetic profile of patients with suspected NBIA disorders Background: NBIA disorders are clinically, radiologically and genetically heterogenous group…Aromatic L-amino acid decarboxylase deficiency: A rare disease case report and literature review
Objective: We review the presentation of a 3-month-old patient who came to our institution with symptoms of dystonia, oculogyric crises, hypotonia, developmental delay, and dysphagia,…Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN
Objective: To describe two unrelated individuals with progressive, late-onset Pantothenate kinase-associated neurodegeneration (PKAN) and a common missense variant in the PANK2 gene Background: Neurodegeneration with Brain-Iron Accumulation…Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…A case of dystonia-parkinsonism associated with a heterozygous PRKRA (DYT16) gene mutation
Objective: We describe the clinical presentation, diagnosis, and treatment of a case of dystonia-parkinsonism associated with a heterozygous mutation in the initiator methionine of the…A case of Bainbridge-Ropers syndrome in a child.
Objective: This study describe the clinical case of Bainbridge-Ropers syndrome caused by the ASXL3 gene mutation. Background: Bainbridge-Ropers syndrome is an autosomal dominant disorder typically…Late-onset Familial Segmental Dystonia with Novel GNAL Mutation
Objective: Report a unique onset of dystonia in family affected by tremor and segmental dystonia Background: Background: A 66-year-old woman of Norweigan descent presented with…MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS
Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…
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