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…Expanding the Spectrum of Alzheimer’s Disease Clinical Presentations: Progressive Dysarthria with Monomelic Tremor
Objective: To present an unusual clinical presentation of an atypical Corticobasilar syndrome secondary to Alzheimer's disease. Background: Corticobasilar syndrome (CBS) typically presents with motor symptoms…Increased Health Care Utilization in Children/Adolescents With Tourette Syndrome Treated With Dopamine D2 Receptor Antagonists: An Electronic Medical Records Database Analysis
Objective: To compare health care resource utilization (HCRU) in dopamine D2 receptor antagonist (D2RA)-exposed versus D2RA non-exposed individuals with Tourette syndrome (TS). Background: TS is…The effectiveness and safety of autologous adipose derived stromal vascular components (SVF) in the treatment of multiple system atrophy
Objective: This study aimed to explore the efficacy and safety of autologous adipose - derived stromal vascular fraction (SVF) in treating MSA. Background: Multisystem atrophy…The importance of vascular anomalies and endothelin-1 factor in the development of vascular parkinsonism
Objective: To study the relationship between vascular endothelium and vascular anomalies in the development of vascular parkinsonism. Background: Although vascular parkinsonism (VP) is relatively rare,…Conjugal Parkinsonism
Objective: To report a case of multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) in a couple. Background: Conjugal parkinsonism denotes an entity where…Atypical Parkinsonism with LRRK2 Mutation Presenting as Multiple System Atrophy
Objective: We describe a rare case of atypical parkinsonism associated with leucine-rich repeat kinase 2 (LRRK2) gene mutation presenting with clinical features suggestive of multiple…A Randomized, Double-blind Phase 3 Trial of Amlenetug Versus Placebo in Patients with MSA: The MASCOT Trial
Objective: Describe the protocol for a randomized, double-blind phase 3 trial evaluating the efficacy and safety of amlenetug versus placebo in slowing clinical progression in…
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