Nervous System Diseases Commons^™

Sporadic Creutzfeldt-Jakob Disease: A Case Report Of Rapidly Progressive Dementia, Diane Olski, Karissa Charles, Cristin Grant, Courtnee Harpine, Shannon Leonard, Sarah Puim

South Atlantic Division GME Research Day 2025

No abstract provided.

Management Of Non-Survivable Head Trauma: Opportunities For Improvement, Sanjana R. Salwi, Mackenzie D. Castellanos, Therese Murphy, Pious D. Patel, Sonia Ajmera, Alex P. Vaz, Connor A. Wathen, Niels D. Martin, Monisha A. Kumar, James M. Schuster, Dmitriy Petrov

Department of Neurosurgery Faculty Papers

BACKGROUND: Managing patients with non-survivable head trauma who do not meet brain death criteria presents significant ethical and clinical challenges. Decisions frequently fall to surrogates with limited guidance, particularly when organ donation status is unknown. This study assessed physician perspectives on communication, interventions, and institutional factors.

METHODS: We conducted a national survey of academic neurosurgery, trauma surgery, and neurocritical care programs. Items examined communication barriers, interventions by donor status, institutional support, and a dissonance measure for interventions viewed as inappropriate.

RESULTS: A total of 133 physicians responded. Top communication barriers were medical literacy, unclear patient values, and intrafamily conflict. Physicians …

Discovering Repurposable Drugs For Alzheimer's Disease And Related Dementias: Target Trial Emulation Using Decentralised Real-World Data, Qiong Wu, Lu Li, Yuqing Lei, Ting Zhou, Huilin Tang, Bingyu Zhang, Yiwen Lu, Maxwell Salvatore, Dazheng Zhang, Jiayi Tong, Tingyin Wang, Siqi Chen, Haoyang Li, Zhenxing Xu, Yu Huang, Yu Hu, Na Hong, Yujia Zhou, Fongci Lin, Kyra O'Brien, Yong Chen, Ruowang Li, Hua Xu, Fei Wang, Jiang Bian, David Wolk, Yong Chen

College of Population Health Faculty Papers

BACKGROUND: Alzheimer's disease and related dementias (ADRD) affect nearly 6.9 million Americans, with the number expected to triple by 2050, while disease-modifying therapies remain unavailable. Drug repurposing, which identifies new indications for already approved medications, offers a more efficient and cost-effective pathway to accelerate development of effective therapies for ADRD. The aim of this study is to identify potential drug repurposing signals by systematically screening routinely prescribed drugs for associations with progression from mild cognitive impairment (MCI) to ADRD.

METHODS: We conducted a multi-site target trial emulation using electronic health record (EHR) data from four decentralised databases: INSIGHT Clinical Research …

Remarkable Seizure Reduction With Trofinetide Treatment In An Adult With Rett Syndrome: A Case Report, Semihan Adegbite, Pooneh Memar Ardestani, Maromi Nei

Department of Neurology Faculty Papers

No abstract provided.

Nuclear Activities And Interactome Of The Ns5 Protein Of Tick-Borne Encephalitis Virus, Maxime Chazal, Aïssatou Aïcha Sow, Elodie Le Seac'h, Dana Hawasheen, Margarida Bonifacio, Mikael Feracci, Ségolène Gracias, Adrià Sogues, Melissa Molho, Heng Pan, Boris Bonaventure, Jean-Pierre Quivy, Geneviève Almouzni, Etienne Decroly, Holly Ramage, Jeffrey R. Johnson, Vincent Caval, Nolwenn Jouvenet

Department of Microbiology and Immunology Faculty Papers

Orthoflaviviruses are RNA viruses responsible for significant diseases in humans, domesticated animals, and wildlife. Their NS5 protein is central in viral replication, functioning both as an RNA-dependent RNA polymerase and a methyltransferase, while also modulating cellular processes, including the interferon response. Although viral replication is cytoplasmic, the NS5 protein of several mosquito-borne orthoflaviviruses cycles between the cytoplasm and the nucleus of infected human cells. However, the nuclear localization and function of NS5 of tick-borne orthoflaviviruses, such as tick-borne encephalitis virus (TBEV), remain poorly understood. Microscopy analysis and cell fractionation revealed that the NS5 protein of TBEV localized to both the …

The Rpm-1/Phr Signaling Hub Modulates Tau-Induced Neurodegeneration Through Regulation Of Microtubule Stability And Mapk Pathways In C. Elegans, Xinxing Ding

Theses and Dissertations

Neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia, are characterized by the accumulation of pathological tau proteins and progressive neuronal loss. Although research regarding tau-mediated toxicity is extensive, the specific pathology that determine whether neurons maintain homeostasis or succumb to collapse under tau-induced stress remain incompletely elucidated. A central, yet still insufficiently understood, feature of these diseases is the disruption of the microtubule (MT) cytoskeleton . The PHR protein family is evolutionarily highly conserved; within this family, RPM-1 in C. elegans functions as an intracellular signaling hub that regulates axon development, synapse formation, axon termination, and various microtubule-associated processes. This …

Persistent Chemotherapy-Induced Peripheral Neuropathy As A Chronic Cancer Pain Syndrome: Mechanisms, Therapeutic Limitations, And Future Directions, Reed Firestone, Jamin Morrison

Department of Medicine Faculty Papers

Background/Objectives: Chemotherapy-induced peripheral neuropathy (CIPN) is a common, dose-limiting complication of cancer therapy and a major contributor to chronic neuropathic pain among cancer survivors. Although traditionally managed as a treatment-related toxicity, persistent CIPN frequently persists long after chemotherapy completion and is increasingly recognized as a major survivorship and palliative care challenge. This review synthesizes current mechanistic, clinical, and translational evidence and reframes persistent CIPN as a chronic neuropathic cancer pain syndrome. Methods: A narrative review of peer-reviewed literature was conducted using PubMed/MEDLINE, Embase, and the Cochrane Library, supplemented by manual review of key references and clinical guidelines. Emphasis was placed …

Spontaneous Intracranial Hypotension With Negative Brain Mri Findings: A Systematic Review Of Diagnostic Strategies And Clinical Outcomes, Marina Romozzi, Giuseppe Garignano, Valid Rastegar, Francesco Onorati, Catello Vollono, Federico Tosto, Masahito Katsuki, Yasuhiko Matsumori, Francesco Signorelli

Student Papers, Posters & Projects

BACKGROUND: Spontaneous intracranial hypotension (SIH) is a debilitating syndrome typically characterized by orthostatic headache and classic brain MRI findings. However, brain MRI abnormalities are indirect manifestations of cerebrospinal fluid (CSF) volume depletion rather than direct evidence of the leak, and some patients may present with unrevealing or absent typical brain MRI findings, posing a considerable diagnostic challenge.

METHODS: A comprehensive search of PubMed/Medline, Web of Science, and Scopus was conducted to perform a systematic review, according to PRISMA guidelines, analyzing the available evidence on MRI-negative SIH (patients without typical SIH findings on their initial brain MRI), including its clinical features, …

Ai-Segmented Upper Airway Imaging Biomarkers Across The Lifespan, David L. Holt, Vishwa S. Parekh

Summer Research Program Abstracts

No abstract provided.

The Neuroprotective Effect Of Cdc42 Inhibition In The G93a Mutant Hsod1 Mouse Model Of Als, Andrea Koly

Undergraduate Theses, Capstones, and Recitals

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease characterized by the selective loss of upper and lower motor neurons, leading to muscle weakness, neuromuscular junction (NMJ) degeneration, paralysis, and eventual death due to respiratory failure. Despite extensive research, effective disease-modifying therapies remain limited, underscoring the need to identify novel molecular targets involved in ALS pathogenesis. Dysregulation of Rho family GTPases has been implicated in neurodegeneration, with Rac and Rho exerting opposing effects on neuronal survival; however, the role of the closely related GTPase Cdc42 remains poorly understood in ALS. In this study, the therapeutic potential of inhibiting …

Seeing The Pattern: Optic Neuritis, Multifocal Mri Lesions, And The Early Diagnosis Of Multiple Sclerosis, Jose J. Loayza Pintado, William Reckley, Aura Calderon, Luis Gaitan

Research Symposium

Background: Optic neuritis is a common neuro-ophthalmic emergency and may be the first clinical manifestation of inflammatory demyelinating disease. In the acute setting, clinicians must rapidly distinguish multiple sclerosis (MS) from important mimics, particularly when optic nerve involvement is accompanied by spinal cord lesions. A structured approach integrating phenotype, MRI lesion distribution and activity, and cerebrospinal fluid (CSF) markers can support timely diagnosis and guide counseling regarding long-term management. We report a young man presenting with unilateral optic neuritis and prior transient neurologic episodes, highlighting a practical diagnostic framework applicable to emergency and inpatient care.

Case Presentation: A 27-year-old man …

Mapping The Neuroexposome: Integrative Analysis Of Dementia Risk Factors Through Multi-Omics And Environmental Profiling In The Egyptian Population., Mai Ahmed Saadzaghloul Othman

Theses and Dissertations

Background: Dementia represents one of the most pressing public health challenges of the twenty-first century, with the global burden projected to reach 153 million cases by 2050. Egypt, as the most populous Arab nation, faces a corresponding rise in age-related diseases, yet comprehensive data from low- and middle-income countries remain severely limited. The neuroexposome framework, integrating genetic susceptibility, environmental exposures, and metabolic alterations, offers a powerful strategy to characterize the complex interplay between internal and external risk factors for Alzheimer's disease (AD) and Alzheimer's disease Related Dementias (ADRD).

Objectives: This thesis aimed to: (1) examine the distribution of APOE alleles …

From Combustion Emissions To Neurotoxicity: Brain Health Risks Of Military Burn Pits Exposure, Katherine M. Eggers, Zoe A. Keller, Paul Barach, Julie M. Tomáška, Joshua P. Nixon, Janeen H. Trembley, Tammy A. Butterick

College of Population Health Faculty Papers

Military burn pits used during post-9/11 U.S. military deployments functioned as uncontrolled combustion systems and were widely utilized to dispose of large volumes of outdoor waste by burning. Burn pits involved heterogeneous waste materials burned under variable temperature and oxygen conditions. These combustion environments generated complex, toxic, multipollutant airborne emission mixtures that included particulate matter (PM2.5), polycyclic aromatic hydrocarbons (PAHs), and volatile organic compounds (VOCs). This narrative review synthesizes epidemiologic, experimental, and mechanistic evidence linking burn pit emissions to disruption of the lung–brain axis and adverse neurological outcomes. We specifically aim to address a critical gap in understanding how combustion-derived …

Sleep-Circadian Modulation Of Autophagy And Glymphatic Function: Failure Of Coordinated Brain Clearance In Parkinson's Disease, Shamaila Zafar, Jay S. Schneider

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Parkinson's disease (PD) involves α-synuclein accumulation and progressive neurodegeneration. This review proposes that PD reflects failure of sleep-circadian regulated brain clearance network integrating intracellular autophagy and extracellular glymphatic transport across neurons, glia, and blood-brain-barrier. Disruption of sleep-architecture and circadian-timing desynchronizes these processes, impairing protein clearance and promoting pathology. This framework positions sleep-circadian dysfunction as an upstream mechanism, suggesting that restoring sleep-circadian regulation may improve protein clearance and support disease-modifying strategies.

Fentanyl Mediated Distortions Of Phasic Dopamine Release Dynamics Encoding Natural Reward And Aversive Processing In The Mammalian Mesolimbic Circuit, Oliver P. Culver Iv

MUSC Theses and Dissertations

Mu opioid receptor (MOR) agonists are recognized to disinhibit tonic dopamine (DA) in the ventral striatum (VS), contributing to opioid addiction and euphoria. However, MOR agonists can also inhibit non-drug reward-seeking, and disrupt conditioned responding to aversive stimuli, a phenomenon not readily explained by tonic DA disinhibition. We hypothesized that this effect could be due in part to disruption of phasic DA responses to conditioned stimuli (CS) which critically shape and maintain behaviors during naturalistic reward and aversive processing. Because MOR effects on CS-evoked phasic DA are largely unexamined, we conducted in vivo fiber photometric recordings in water-deprived male and …

Parkinson’S Disease Phenotype Stratification Using Multiple Correspondence Analysis, Kelly Astudillo

Dissertations, Theses, and Capstone Projects

Parkinson’s disease (PD) is the second most common neurodegenerative disorder, with over 12 million people projected to be affected by 2040 (Dorsey et al., 2018). Deep phenotyping and stratification can provide useful information regarding PD pathogenesis and can aid in the  development of disease modifying therapies that aim to delay the progression or prevent the onset of neurodegeneration (Blandini et al., 2019; Smith & Schapira, 2022). Utilizing multivariate methods such as multiple correspondence analysis (MCA) permits for the simultaneous analysis of distinct data modalities. To the best of our knowledge, MCA has not been previously used to explore phenotype patterns …

A Predictive Coding Account Of Spatial Working Memory Following Prophylactic Levetiracetam Administration Prior To Traumatic Brain Injury, Omeima Mutwali

Dissertations, Theses, and Capstone Projects

Traumatic brain injury (TBI) symptom prevention and remediation is an important area of research that would benefit vulnerable groups, including active-duty and veteran soldiers. These patients can sustain penetrative forces in fields of combat or in training, which result in focal lesions that trigger inflammatory and degenerative processes in the brain. Both primary and secondary injuries are associated with changes to cognition, behavior and affective state. This disease poses increased risk of epileptogenesis, as well. Given these outcomes, prior research has evaluated levetiracetam (LEV) as a prophylactic treatment for seizures, cognitive deficits and negative emotionality. LEV acts as a presynaptic …

Fda Approval Of Tradipitant: A Novel Approach To Motion Sickness Treatment, Haley Brown, Jennifer Cao, Allie Honigford, Leah Heitkamp, Sarah Hiett, Connor Dains, Brenna Hissong, Manoranjan D'Souza

Pharmacy and Wellness Review

Motion sickness is a prevalent neurophysiological condition affecting approximately one-third of the worldwide population, resulting from sensory mismatch and the brain’s internal model of motion. It is characterized by nausea, vomiting, dizziness, and autonomic symptoms during exposure to actual or virtual motion, which may significantly impair daily functioning and quality of life. Current guidelines recommend the prevention and treatment of motion sickness through pharmacologic, herbal, and non-pharmacologic strategies. Scopolamine and first-generation antihistamines are effective pharmacologic options, while ginger has demonstrated some benefit in reducing symptoms as an herbal option. Non-pharmacologic interventions such as habituation training, behavioral techniques, and sensory strategies …

Lovastatin Potentiates The Function Of Α7-Nicotinic Acetylcholine Receptors, Dmytro Isaev, Keun-Hang Susan Yang, Murat Oz

Pharmacy Faculty Articles and Research

Background/Objectives: Statins are currently one of the most commonly used cholesterol-lowering drugs. In recent years, in addition to their well-known effects on the cardiovascular system, statins have been shown to exert beneficial effects in the progression of various neuropsychiatric and neurodegenerative diseases. Methods: In this study, the effects of lovastatin on the function of α7-nicotinic acetylcholine (nACh) receptors expressed in rat hippocampus and Xenopus oocytes were investigated. Results: In whole-cell patch clamp studies in hippocampal neurons, 21-day chronic (20 mg/kg), but not acute (20 min), lovastatin treatment caused significant potentiation of choline (a selective agonist for α7 nACh receptors)-induced currents …

Objective Oculomotor, Vestibular, Reaction Time, And Cognitive Signatures Of Vestibular Migraine, Claire E. J. Ceriani, Alexandr Braverman, Alexander Kiderman

Department of Neurology Faculty Papers

OBJECTIVE: To evaluate oculomotor, vestibular, reaction time, and cognitive (OVRT-C) function in patients with vestibular migraine (VM) using objective eye-tracking-based metrics and to identify patterns of dysfunction relative to healthy controls.

BACKGROUND: Vestibular migraine is a common yet underdiagnosed cause of vertigo. Diagnosis remains primarily clinical, because objective neurologic and vestibular findings are often absent or inconsistent. Quantitative methods capable of capturing the multisystem manifestations of VM may improve objective characterization of the disorder.

METHODS: Participants with a clinical diagnosis of vestibular migraine were recruited from a tertiary headache center and assessed using a battery of OVRT-C tests administered with …