Expanding the concept of “occupational dystonia”: data from the Italian Dystonia Registry
Objective: This study aimed to investigate whether certain occupations are associated with an increased risk of developing specific focal forms of idiopathic adult-onset dystonia (IAOD),…Recrudescence of a Compensated Hemidystonia-hemiatrophy Syndrome After COVID-19 Infection
Objective: To educate readers about a unique presentation of hemidystonia-hemiatrophy syndrome which presented after an infection with COVID-19 Background: Hemidystonia-hemiatrophy syndrome is a rare disorder…Exploring the non-invasive epigenetic screening test for hereditary dystonia DYT-KMT2B
Objective: To explore the altered H3K4me3 levels in non-neural tissue of DYT-KMT2B patients. Background: DYT-KMT2B, also known as DYT28, is a childhood-onset hereditary dystonia caused…Social cognition in cervical dystonia: an fMRI study
Objective: Study functional changes within a network that mediates recognition of facial expressions in patients with cervical dystonia by MRI. Background: Cervical dystonia (CD) is…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,…
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