Transcriptional dysregulation in iPSC-derived neurons from patients with X-linked dystonia-parkinsonism
Objective: We pursue to identify dysregulated cellular pathways underlying X-linked dystonia-parkinsonism (XDP) by transcriptome profiling of induced pluripotent stem cell (iPSC)-derived neuronal cultures from XDP…Post encephalitic dystonia-ataxia syndrome
Objective: To describe a young man with post encephalitc dystonia-ataxia with transient worsening following a febrile episode Background: We had a 19 year old young…Complex movement disorder presentations of autoimmune encephalitis – recovery at 4 weeks versus 4 years
Objective: The goal is to learn from different presentations of Autoimmune Encephalitis (AIE) so that we consider the diagnosis more quickly, pursue the work-up judiciously…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…Cervical Dystonia as a post Wernicke’s Encephalopathy sequelae.
Objective: To highlight the rare clinical presentation of cervical dystonia(sagittal shift) as a post Wernicke’s Encephalopathy sequelae. Background: Wernicke’s encephalopathy (WE) is a neurological emergency…Hemidystonia of cerebellar origin
Objective: To report the case of a patient developing hemidystonia in the course of cerebellar hemorrhage. Background: About 1-4% of strokes may include movement disorders,…Analysis of functional connectivity using machine learning and deep learning in EEG data from patients with focal dystonia
Objective: To apply a novel machine learning (ML) method to EEG data as a tool for the diagnosis of dystonia, providing a medical interpretation and…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…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:…Space-occupying lesion presenting with hand dystonia
Objective: To report the case of a patient diagnosed with a solitary fibrous tumor located on the foramen magnum that presented with hand dystonia Background:…
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