The Great Mimicker Strikes Again
Objective: Report the first case of hyperekplexia caused by neurosyphilis. Background: Hyperekplexia is an exaggerated startle reflex appreciated when auditory, tactile, or visual stimuli causes…Expanding the spectrum of Hereditary Spastic Paraplegia: An interesting Case .
Objective: We describe an interesting case of a young adult with a 5 year progressive history of spastic quadripareisis , cognitive decline, seizures and pseudobulbar…Neurologic music therapy for fine motor rehabilitation in Huntington’s disease: a pilot study
Objective: To present preliminary evidence of fine motor rehabilitation in patients with Huntington’s disease using neurologic music therapy. Background: Huntington’s disease (HD) is an autosomal…Longitudinal clinical and biomarker characteristics of non-manifest GBA1 N409S carriers: the PPMI cohort
Objective: To examine longitudinal change in clinical characteristics, dopamine transporter (DAT) imaging and biofluid biomarkers in GBA1 N409S non-manifesting carriers (NMCs) versus healthy controls (HCs)…Modulation of a subthalamic nucleus related network associated with motor response following Deep Brain Stimulation
Objective: To identify a network associated with the therapeutic effects of STN DBS Background: The network topography associated with the therapeutic effects of STN DBS…DNA Methylation is associated with gene expression changes in sporadic Parkinson Disease in the PPMI cohort.
Objective: To compare baseline whole blood DNA methylation in unmedicated sporadic Parkinson Disease (sPD) and healthy control (HC) participants from PPMI. To evaluate whole blood…A family of Huntington’s disease with genetic anticipation in its paternal inheritance
Objective: We report a family of Huntington’s disease that exhibits genetic anticipation in its paternal inheritance. Background: HD is an autosomal dominant disorder with triad…AI-Guided Microelectrode Recording for GPi DBS in Parkinson’s disease
Objective: To evaluate the feasibility of using a machine learning algorithm to interpret intraoperative microelectrode recording (MER) during deep brain stimulation (DBS) lead placement surgery.…Neural activity in pedunculopontine nucleus during sleep
Objective: Assess neural activity in various brain areas in sleep versus wakefulness in pediatric patients with movement disorders Background: Pedunculopontine nucleus (PPN) is believed to…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…
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