DYT1 gene mutation: an atypical presentation with myoclonic dystonia
Objective: In the present work, we describe the case of a 54 years old man who presented a young-age onset (7-8 years old) of unilateral…Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism
Objective: To determine whether structural brain changes are present in female carriers (MC) of the TAF1 pathogenic change causing X-linked dystonia-parkinsonism (XDP). Background: XDP is an X-linked…Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients
Objective: To identify whole exome and mitochondrial genome mutation spectrum of dystonia in India and to establish clinical significance of mutations by phenotype-genotype correlation. Background:…Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA
Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…Childhood-onset writer’s cramp evolving to generalised dystonia –a new mutation in KMT2B gene
Objective: To present a case of childhood-onset dystonia with a new mutation in KMT2B gene. Background: KMT2B-related dystonia (DYT-KMT2B) is an increasingly recognized cause of…Hereditary generalised dystonia associated with a new large duplication on the X chromosome
Objective: To describe a family with a new variant in X chromosome as possible aetiology for inherited generalised dystonia. Background: Chromosomopathies are rare but well-known…Long-term outcomes of deep brain stimulation for VPS16-related dystonia: A multi-center international study
Objective: To evaluate long-term effects of DBS in an international cohort of people with VPS16-related dystonia. Background: Variants in VPS16 gene have recently been related…VPS11 associated movement disorder in a pediatric case
Objective: Disorders of intracellular trafficking may present with different neurological features such as pediatric movement disorders. Background: A 15-year-old boy presented with a three-year history…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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