Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variant
Objective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…Young onset Dystonia-Parkinsonism, Intellectual Disability & Mineral deposits in Basal ganglia – Think “RAB39B” mutation
Objective: Please consider RAB39B gene when encountering a young onset dystonia Parkinson phenotype alongside non-progressive intellectual disability and brain mineral deposits. This consideration is crucial…Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
Objective: The aim is to identify the missing genetic causes of Paroxysmal Kinesigenic Dyskinesia (PKD) Background: Although the group of genes associated with PKD is…A new phenotype-genotype correlation for FIG4 gene and Parkinson’s disease
Objective: We present a patient with atypical Parkinson’s disease (PD), carrying a homozygous missense mutation of FIG4. Background: FIG4 is involved in endosomal-lysosomal trafficking and…KMT2B-Related Dystonia And DBS: Tertiary Center Experience
Objective: This study aims to evaluate the functional outcomes and effectiveness of deep brain stimulation (DBS) in patients with genetic dystonia secondary to a KMT2B …Hemochromatosis and Movement Disorders
Objective: To describe a series (clinical and imaging) of movement disorders occurring in patients with hemochromatosis Background: Hemochromatosis is a frequent disease, characterized by deposits…Genetic Variant in the VPS16 Gene in a 44-year-old Patient with Generalized Dystonia
Objective: To report a case of generalized dystonia with a genetic variant in VPS16 gene, possibly related to AD dystonia 30. Background: Dystonia is characterized…Neurodegeneration with brain iron accumulation in pediatric population: Clinico-radiologic and genetic features
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics with genetics, of pediatric patients with Neurodegeneration with brain iron accumulation (NBIA). Background: NBIA is…Oh man: Why are males more prone to Musician’s Dystonia?
Objective: Our objective was to evaluate gender differences of risk factors contributing to the development of Musician’s Dystonia. Background: Musician’s Dystonia (MD) is a task…PRRT2 paroxysmal dyskinesia mimicking functional motor disorders: a pediatric case.
Objective: This report highlights how challenging the differential diagnosis between organic and functional motor disorders may be. Indeed, atypical presentations and overlapping features of movement…
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