Role and Integration of a Dietitian into the Deep Brain Stimulation Multidisciplinary Screening Process
Objective: Define the role and integration of a dietitian into the multidisciplinary screening process for deep brain stimulation (DBS) in movement disorders. Background: Most DBS…Acceptability, Feasibility, and Appropriateness of wearable technology in Lewy body dementia
Objective: Determine implementation outcomes of Apple watches amongst individuals with Lewy body dementia (LBD) and their care partners. Background: Wearable technology can provide valuable information about…Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program
Objective: To develop an algorithm for identifying patients with cerebrotendinous xanthomatosis (CTX) in a cohort of individuals with neurodegenerative disorders. Background: CTX is a rare…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Proteome-Wide Association Study Identifies Plasma β-Glucuronidase as a Causal Risk Protein for Multiple System Atrophy
Objective: This study aims to identify plasma proteins associated with multiple system atrophy (MSA), using a proteome-wide association study (PWAS) and to determine their causal roles…Wearable-based Virtual Motor Exam enables remote tracking of motor symptom progression in early-stage Parkinson’s disease
Objective: To evaluate the ability of smartwatch-based measures of tremor, bradykinesia and gait to capture Parkinson’s disease (PD) progression. Background: Wearable sensors enable remote, objective,…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Antisense Oligonucleotide Treatment in Ataxia-Telangiectasia
Objective: Describe results of an antisense oligonucleotide (ASO) treatment trial in a patient with ataxia-telangiectasia (AT). Background: AT is a neurodegenerative, incurable disease of children…Longitudinal FDG-PET Study of Metabolic Trajectories and Connectivity Alterations in Multiple System Atrophy
Objective: 本研究使用 FDG-PET 探索 MSA 中葡萄糖代谢和网络连接的纵向变化，以辅助早期诊断和监测疾病进展。 Background: Multiple system atrophy (MSA) is a rapidly progressive neurodegenerative disease with distinct metabolic patterns in its parkinsonian (MSA-P)…30-year Delayed Diagnosis of Juvenile Parkinson’s Disease in a Patient Misdiagnosed with Dopa-responsive Dystonia
Objective: To report a case of Juvenile Parkinson’s Disease (JP) misdiagnosed as dopa-responsive dystonia (DRD) and to emphasize the importance of early genetic testing in…
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