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…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…Somnolence-Related Events Over Time with Valbenazine Treatment for Chorea Associated with Huntington’s Disease
Objective: To present somnolence-related events over time from 2 studies of once-daily valbenazine, which is approved for chorea in adults with Huntington’s disease: KINECT®-HD (K-HD,…Longitudinal Relationship Between Brain Metabolism and Clinical Changes in Huntington’s Disease
Objective: To understand the relationship between progression of the clinical symptoms and patterns of brain hypometabolism progression in a large cohort of Huntington’s disease (HD)…Assessing Executive Function in HD: Comparing the One Touch Stockings of Cambridge and Zindametrix’s Tower-Z as Components of the HD-CAB
Objective: To assess the comparability of performance by people with Huntington’s disease (HD) on two tower tasks. Background: Cognitive decline is a hallmark feature of…Medication Refractory Restless Legs Syndrome: Real-World Experience
Objective: To identify demographic or clinical factors predictive of refractory cases. Background: Restless Legs Syndrome (RLS), impacting 5-13% of the US population, poses challenges in…Pathways for diagnosis and multimodal management, including botulinum neurotoxin therapy, in shoulder conditions following central lesions
Objective: To build on existing publications and give guidance for healthcare providers managing shoulder conditions following central lesions, including how to identify, diagnose, and treat…Suvecaltamide Metabolites Are CaV3 Modulators and Contribute to Pharmacological Effect
Objective: To determine the potency-concentration relationships and combined pharmacological effects for suvecaltamide and its 2 active metabolites (JZZ05000034=M01, JZZ05000035=M02; total active moiety [TAM]). Background: T-type…Cortical response to proprioceptive stimulation in orthostatic tremor – a magnetoencephalography study
Objective: To investigate cortical integration of proprioceptive information in patients with orthostatic tremor (OT), measured as event-related synchronisation (ERS) response to proprioceptive stimulation using magnetencephalography…Secondary orthostatic tremor associated with hyperthyroidism: A case report
Objective: To illustrate the electrophysiological and clinical findings in a patient with secondary orthostatic tremor (OT) associated with hyperthyroidism Background: Orthostatic tremor is a rare…
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