Task-Based Functional Imaging in Task-Specific Focal Dystonia during Dystonia-Related and -Unrelated Tasks
Objective: To use task-based functional magnetic resonance imaging [fMRI] to examine body region-specific sensorimotor changes with the long-term goal of identifying potential unifying pathophysiological fMRI features…GABA in the Basal Ganglia Tracks Motor Severity and Response to BoNT Treatment in Cervical Dystonia
Objective: Determine if GABA and glutamate levels within sensorimotor network nodes correlate with symptom severity in cervical dystonia (CD) and are altered by botulinum neurotoxin…Abnormal brain iron metabolism influences neural function in isolated laryngeal dystonia
Objective: To investigate iron accumulation as a pathophysiological signature of laryngeal dystonia (LD) and assess the abnormal influence of iron on neural activity within the…Structural and Functional Brain Alterations in Laryngeal Dystonia: A Coordinate-Based Activation Likelihood Estimation Meta-Analysis
Objective: Efforts to understand laryngeal dystonia (LD) pathophysiology using neuroimaging techniques have demonstrated altered brain structure and function in patients compared to healthy controls1-5. However,…Writing dysfluency associates with basal ganglia network dysfunction in writer’s cramp dystonia
Objective: The primary objective of this study was to identify brain regions associated with behavioral measures of dystonia in a specific subtype called writer’s cramp…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…DYT-KMT2B generalized dystonia managed with GPi-DBS
Objective: The phenotypic spectrum in dystonic syndromes in childhood is wide. Mutations in KMT2B gene were first described in 2016 and it means mutations in…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…Progressive Apraxia of Speech as a Presenting Symptom of Spinocerebellar Ataxia Type 2
Objective: To describe a spinocerebellar ataxia (SCA) presenting with progressive apraxia of speech (AOS), a previously undescribed SCA phenotype. Background: Spinocerebellar ataxia type 2 (SCA2)…A Conversational GPT Agent for Parkinson’s Disease
Objective: To create a conversational chat agent that can provide persons with Parkinson’s with information about their disease. Background: Artificial intelligence using Large Language Models…
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