Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…Rapid Onset Kinematic Effects of Thalamic/Subthalamic DBS in Cervical Dystonia
Objective: To assess the acute effect of combined ventrolateral thalamus (VL-Th) and subthalamic nucleus (STN) stimulation in Cervical Dystonia (CD) on clinical and kinematic measurements…Treatment of Craniofacial Dystonias with Methylphenidate: A Case Series.
Objective: To determine benefit from using methylphenidate for patients with uncontrolled blepharospasm and/or oromandibular dystonia. Background: The preferred treatment for blepharospasm and related craniofacial dystonias…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…
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