dystonia caused by a rare variant of TUBB4A gene: a case report in a non-asian population
Objective: To describe the first case of a rare variant of the TUBB4A gene in a Brazilian individual Background: TUBB4A-related leukodystrophy presents with various clinical…Outcomes From Genetic Testing in a UK Movement Disorder Clinic
Objective: The reported yield from next generation sequencing (NGS) in Movement Disorder clinics is 11.3 – 22% [1,2]. We aimed to determine current practice and yield…Genetic spectrum of monogenic dystonia in Asian Indian patients
Objective: We aimed to identify potentially pathogenic genomic variations associated with dystonia in Asian Indian patients using whole exome sequencing. Background: Genomic variations associated with…Movement disorders in children with neurometabolic and neurodegenerative disorders: A single-center prospective study
Objective: To analyze the prevalence, patterns and severity of movement disorders in children with genetically proven neurometabolic and neurodegenerative diseases. Background: Movement disorders are often…Transcriptomic profiling in DYT1 dystonia: unravelling pathogenic pathways.
Objective: The aim of this project is to investigate post-mortem brain tissues, iPSC and iPSC-derived neurons from controls and patients with DYT1 dystonia to find…Pronounced Cervical Dystonia in Ataxia with Vitamin E Deficiency
Objective: Objective: To describe a case report of an atypical phenotype of ataxia with vitamin E deficiency (AVED) and marked cervical dystonia. Background: Background: AVED…Transcranial magnetic stimulation study in primary dystonia of presumed genetic etiology
Objective: To study the neurophysiological parameters in primary dystonia of presumed genetic etiology using transcranial magnetic stimulation (TMS) and correlate with their genotype. Background: The…The use of pallidal deep brain stimulation (GPi-DBS) to treat GNAO1 gene associated hyperkinetic syndromes
Objective: To describe the clinical features and benefits of GPi-DBS approach in two patients with GNAO1 gene mutations to whom several episodes of choreo-dystonia exacerbations…Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders
Objective: To describe the phenomenology and clinical course of movement disorders in CTNNB1-related neurodevelopmental disorder (CTNNB1-NDD). Background: CTNNB1-NDD is a rare neurogenetic condition caused by…Exploring the effects of torsinA dysfunction in an iPSC-derived neuronal model of TOR1A dystonia
Objective: To investigate phenotypic differences between iPSC-differentiated cortical neurons derived from patients with TOR1A dystonia compared to healthy controls. Background: Primary generalised dystonia is most…
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