Neurology Commons^™

Impaired Dnajb2 Response To Heat Shock In Fibroblasts From A Neuropathy Patient With Dnajb2/Hsj1 Mutation: Cystamine As A Potential Therapeutic Intervention, Raj K. Pradhan, Nikolas G. Kinney, Brigid K. Jensen, Hristelina Ilieva

Farber Institute for Neuroscience Faculty Papers

Background and Objectives: Neuropathy is a debilitating disorder characterized by peripheral nerve dysfunction and damage to sensory, motor, and autonomic neurons and their axons. While homozygous mutations in DNAJB2/HSJ1 have been linked to early-onset neuropathy, a heterozygous DNAJB2 c.823+6C>T was discovered in an adult patient with severe sensory–motor polyneuropathy. This mutation is predicted to affect both isoforms of the protein. DNAJB2 (HSP40), a key member of the heat shock protein family, plays a critical role in cellular protection and stress, including response to heat shock. DNAJB2 traffics unfolded proteins to another heat shock protein, HSP70, and activates its ATPase …

Intracellular Inclusions Induced By Patient-Derived And Amplified Α-Synuclein Aggregates Are Morphologically Indistinguishable, Rabab Al-Lahham, Mark E Corkins, Mohd Ishtikhar, Prakruti Rabadia, Santiago Ramirez, Victor Banerjee, Mohammad Shahnawaz

Faculty, Staff and Student Publications

Lewy Body Disease (LBD) and Multiple System Atrophy (MSA) are synucleinopathies with distinct prognoses and neuropathologies, however, with overlapping clinical symptoms. Different disease characteristics are proposed to be determined by distinct conformations of alpha-synuclein (α-Syn) aggregates, which can self-propagate and spread between cells via a prion-like mechanism. The goal of this study is to investigate whether α-syn aggregates amplified from brain and CSF samples of LBD and MSA patients using the Seed Amplification Assay (SAA) maintain α-Syn seeding properties similar to those of α-syn aggregates derived from patients' brains. To address this, SAA-amplified and un-amplified α-Syn aggregates from LBD and …

Brain And Cerebrospinal Fluid 3d Center Of Mass Shift After Spaceflight, Katherine G Warthen, Stuart H Sater, Larry A Kramer, Khader M Hasan, Michael A Williams, Millennia Young, Brandon R Macias, Steven S Laurie, Bryn A Martin

Faculty, Staff and Student Publications

A subset of long-duration spaceflight astronauts at the International Space Station has been documented to develop spaceflight associated neuro-ocular syndrome (SANS). Researchers have sought to understand SANS by quantification of ocular and brain structural changes thought to be associated with weightlessness induced headward fluid shift. Brain tissue shift and cerebrospinal fluid (CSF) redistribution has been observed as measured by MRI on return to Earth, and not fully quantified. To improve the understanding of this phenomenon, we developed and applied automated methods to quantify 3D center of mass shift within the skull of the extra-axial cerebrospinal fluid (eaCSF) and brain after …

Hippocampal-Prefrontal Functional Neural Networks In A Rat Model Of Fragile X Syndrome Are Poorly Organized With Limited Resiliency, Mohamed Ouardouz, Patrick Jasinski, Mohamed Khalife, J. Matthew Mahoney, Amanda E. Hernan, Rod C. Scott

Department of Neurology Faculty Papers

Fragile X Syndrome (FXS) is a common cause of autism spectrum symptoms. The genetic mutation results in multiple molecular alterations that are hypothesized to negatively impact neural circuit development although the nature of any functional neural dynamic consequences remain unclear. Therefore, the characteristics of hippocampal-prefrontal (H-PFC) network dysfunction were investigated in a rat model of FXS. FMR-KO and control rats underwent behavioral tests assessing sociability, memory, and anxiety to validate and replicate previously recognized deficits. Single-unit electrophysiology in the H-PFC circuit during exploration was used to measure patterns of action potential firing that were then compared between groups using generalized …

Characterising Acute And Chronic Care Needs: Insights From The Global Burden Of Disease Study 2019, A. A. Asadi-Pooya

Department of Neurology Faculty Papers

Chronic care manages long-term, progressive conditions, while acute care addresses short-term conditions. Chronic conditions increasingly strain health systems, which are often unprepared for these demands. This study examines the burden of conditions requiring acute versus chronic care, including sequelae. Conditions and sequelae from the Global Burden of Diseases Study 2019 were classified into acute or chronic care categories. Data were analysed by age, sex, and socio-demographic index, presenting total numbers and contributions to burden metrics such as Disability-Adjusted Life Years (DALYs), Years Lived with Disability (YLD), and Years of Life Lost (YLL). Approximately 68% of DALYs were attributed to chronic …

Drug-Induced Hypersensitivity Syndrome Resulting In Hepatotoxicity And Epstein-Barr Virus Reactivation Following Initiation Of Levetiracetam, Zechariah Jung, Xavier Zonna, Samuel J. Wlasowicz, Conor Banta, Lawrence Canale, Joseph Bielecki

Advances in Clinical Medical Research and Healthcare Delivery

A 28-year-old male with a past medical history of alcohol abuse had new-onset seizures suspected to be caused by alcohol use. Twelve days after starting levetiracetam for seizure prophylaxis, he began to develop a pruritic rash, darkening of his urine, periods of jaundice, and hot flashes that correlated with the timing of his levetiracetam dosing. He was subsequently found to have lymphocyte-predominant leukocytosis, elevated aminotransferases, and alkaline phosphatase. Following discontinuation of his levetiracetam, he was found to have positive Epstein-Barr virus (EBV) serology suggestive of reactivation. This case demonstrates levetiracetam as a rare cause of drug-induced hypersensitivity syndrome (DIHS) along …

Chorea Hyperglycemia Basal Ganglia (Chbg) Syndrome: A Case Report, Ammad Naeem, Mohamad Omar Beck, Ahsan R. Khan, Ribal Sajjad

Journal of Community Hospital Internal Medicine Perspectives

Chorea, characterized by sudden, involuntary movements of the face and limbs, arises from various causes, including neurodegenerative diseases, metabolic disorders, and structural brain changes, notably in the basal ganglia. Acute lesions in the basal ganglia due to ischemia or vascular pathology can also precipitate chorea. Hyperglycemia-induced basal ganglia changes, termed chorea hyperglycemia basal ganglia, predominantly affect elderly females with type 2 diabetes. We report a 62- year-old female with poorly managed diabetes presenting with involuntary jerking movements, initially in the right leg, progressing to the right arm, face, and lips over three days. Her history included hyperlipidemia and hypertension, and …

Alzheimer’S Disease Protective Allele Of Clusterin Modulates Neuronal Excitability Through Lipid-Droplet-Mediated Neuron-Glia Communication, Xiaojie Zhao, Yan Li, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Alena Kozlova, Matthew J Moulton, Lindsey D Goodman, Zhiping P Pang, Alan R Sanders, Hugo J Bellen, Gopal Thinakaran, Jubao Duan

Duncan NRI Faculty and Staff Publications

Background: Genome-wide association studies (GWAS) of Alzheimer's disease (AD) have identified a plethora of risk loci. However, the disease variants/genes and the underlying mechanisms have not been extensively studied.

Methods: Bulk ATAC-seq was performed in induced pluripotent stem cells (iPSCs) differentiated various brain cell types to identify allele-specific open chromatin (ASoC) SNPs. CRISPR-Cas9 editing generated isogenic pairs, which were then differentiated into glutamatergic neurons (iGlut). Transcriptomic analysis and functional studies of iGlut co-cultured with mouse astrocytes assessed neuronal excitability and lipid droplet formation.

Results: We identified a putative causal SNP of CLU that impacted neuronal chromatin accessibility to transcription-factor(s), with …

Socio-Medical Factors Associated With Neurodevelopmental Disorders On The Kenyan Coast, Patricia Kipkemoi, Jeanne E. Savage, Joseph Gona, Kenneth Rimba, Martha Kombe, Paul Mwangi, Collins Kipkoech, Beatrice Mkubwa, Amina Abubakar, Charles Newton

Institute for Human Development, East Africa

Neurodevelopmental disorders (NDDs) are a group of conditions with their onset during the early developmental period and include conditions such as autism and intellectual disability. Occurrence of NDDs is thought to be determined by both genetic and environmental factors, but data on the role of environmental factors for NDD in Africa is limited. This study investigates environmental influences on NDDs in children from Kenya. This case-control study compared children with NDDs and typically developing children from two studies on the Kenyan coast. We included 172 study participants from the Kilifi Autism study and 151 from the NeuroDev study who had …

Rare Jugular Bulb Tumor Presenting As Bilateral Papilledema, Yoona Choe, Matthew Boyle, Peter Maduka

Rowan-Virtua Research Day

Optic disc edema, which may arise from a range of inflammatory, ischemic, compressive, infiltrative, or hereditary causes, can also indicate elevated intracranial pressure in the form of papilledema. Given its potential association with life-threatening conditions such as mass lesions or venous sinus thrombosis, timely identification and thorough evaluation are critical. In this case, a 61-year-old female presented with a complaint of a new-onset floater in her left eye. Despite minimal symptoms and an unremarkable systemic review, dilated fundus examination revealed bilateral optic disc edema with hyperemia and hemorrhages, prompting urgent neuroimaging. MRI and MRV identified venous thrombi in the right …

Managing Refractory Epilepsy In A Resource Limited Setting—Doing More With Less, Ruta Yardi, Kurupath Radhakrishnan, Pauline Samia, Janet Wilson, Amza Ali

Paediatrics and Child Health, East Africa

Drug-resistant epilepsy (DRE) disproportionately affects individuals in low- and middle-income countries (LMIC), where access to affordable and effective care remains a significant challenge. Patients with DRE face high healthcare costs, inadequate access to epilepsy surgery, and limited availability of trained professionals. This review explores a multifaceted approach to managing DRE in resource-constrained settings. Key strategies include rational polypharmacy with cost-effective antiseizure medications (ASM), implementation of dietary therapies like the ketogenic diet, and cost-conscious presurgical evaluations. Enhancing emergency care systems, particularly for conditions like status epilepticus, is critical, as is the development of standardized diagnostic and treatment protocols and training programs …

Is The Vaping Epidemic Linked To Neurologic Changes And Mental Health Diagnoses Amongst Us Adolescents?, Tracy Lin, Victoria Shwe

Rowan-Virtua Research Day

Vaping has significantly increased among U.S. adolescents, driven by the rise of e-cigarettes and flavored pods. Nicotine exposure during brain development is linked to changes in the limbic-dopaminergic system, white matter integrity, and increased risk of emotional and behavioral dysregulation. Higher rates of depression, anxiety, and suicidality are reported among adolescent users, with greater symptom severity seen in those with high vaping dependence. Though studies show correlation rather than causation, findings suggest vaping may contribute to rising mental health diagnoses. Addressing vaping’s neurological and psychological impact is critical to guiding prevention efforts, regulatory policies, and support for at-risk youth.

Is Acupuncture At The Auricular Shenmen Point Effective In Treating Anxiety?, Nicole Vaiani, Alexander King, Venkateswar Venkataraman

Rowan-Virtua Research Day

Anxiety disorders are the most prevalent mental health condition in the United States and are often managed with pharmacological interventions, which can lead to adverse side effects. As a result, alternative therapies such as acupuncture are gaining attention. This study investigates the effectiveness of auricular acupuncture, specifically targeting the Shenmen point, in reducing symptoms of anxiety. We analyzed ten randomized controlled trials that included quantitative outcome measures. The results suggest that auricular acupuncture at the Shenmen point is an effective and well-tolerated adjunctive treatment for anxiety. While further research with larger sample sizes and extended follow-up periods is warranted, these …

Investigating Sleep Quality In Post-Stroke Delirium: A Scoping Review, Shay Greco, Bethany C. Young

Rowan-Virtua Research Day

Background: Delirium affects approximately 59% of hospitalized patients with intracerebral hemorrhage and is associated with poor outcomes. Sleep-wake cycle disturbances are hypothesized to contribute to delirium development, particularly in neurointensive care settings where frequent sleep interruptions occur.

Methods: We conducted a scoping review of literature published between 2014-2024 using PubMed, CINAHL, Embase, and Cochrane databases. Studies were included if they observed sleep in adult stroke populations.

Results: Four observational studies (2018-2023) met inclusion criteria, with sample sizes ranging from 20-112 participants. All studies included patients with ICH. All studies reported associations between poor sleep in patients with ICH and delirium …

A Better Road To Recovery- Effectiveness Of Osteopathic Manipulative Treatment Compared To Conventional Methods On Post-Concussion Patients, Joliana H. Eskandar

Rowan-Virtua Research Day

Background:

Concussion, a form of traumatic brain injury, often presents with sleep disturbances, headache, confusion, and memory impairment. Current treatment includes reduced screen time, physical activity, and increased rest. For decades, these treatment options have demonstrated improvement in symptoms. Recently, there is growing interest in whether using osteopathic manipulative treatment (OMT) to target structural dysfunctions is more effective. This review compares OMT to conventional treatment methods in post-concussion patients.

Methods:

This literature review uses data from clinical trials, randomized controlled trials, observational studies, and case reports within the past 10-15 years. It includes adolescents, adults, elderly, athletes, and non-athletes while …

A Broad Examination Of Sleep Issues In Pediatric Multiple Sclerosis And Other Conditions, Chaithanya Annaluru

Rowan-Virtua Research Day

Background: Poor sleep hygiene can lead to serious health consequences, including the development of health disorders and the worsening of chronic illnesses. Poor sleep quality or duration has been linked to neurocognitive changes such as inattention and lower IQ scores. Sleep disorders are especially prevalent among pediatric patients with neurologic and neuropsychiatric conditions; for example, children with epilepsy and ADHD exhibit higher rates of parasomnias, while patients with multiple sclerosis (MS) experience REM sleep behavior disorder and insomnia more often than the general population. Additionally, co-existing obstructive sleep apnea (OSA) and epilepsy can worsen seizure control, and uncontrolled epilepsy can …

Dabigatran Reduced Acute Microgliosis In A Mouse Model With Tbi, Nicholas R. Eltman, Rashmeena Abbasi, Mary C. Kosciuk, Syed Ahmed, Jose L. Pascual, Randel L. Swanson, Nimish K. Acharya

Rowan-Virtua Research Day

Objective:

The study objective was to investigate the acute anti-inflammatory effects of dabigatran in a preclinical mouse controlled cortical impact (CCI) model of severe traumatic brain injury (TBI).

Design

Mice were separated into three groups: controlled cortical impact (CCI) with dabigatran (drug treatment, n=5), CCI with saline (positive control, n=5), and sham CCI without saline or dabigatran (negative control, n=3). Dabigatran (80mg/kg) or saline was administered orally at 2, 10, 18, 26, 34, and 42 hours following experimental CCI in the drug treatment or positive control groups, respectively. Animals in the negative control group received sham CCI only. 48h following …

The Anxiolytic Effects Of Ashwagandha Supplementation In Adults With Autism Spectrum Disorder And Anxiety, Jessica Mitchell, Andrea Iannuzzelli, Wendy Aita

Rowan-Virtua Research Day

BACKGROUND: The neuroendocrine system activates the hypothalamus-pituitary-adrenal (HPA) axis during stress,1 and individuals with autism spectrum disorder (ASD) may have atypical stress responses linked to HPA axis dysregulation.2 Prolonged activation of this system increases cortisol secretion, the body’s primary stress hormone.3 Withania somnifera (Ashwagandha) is a traditional herbal remedy believed to reduce stress by modulating the HPA axis and lowering cortisol levels.5

HYPOTHESIS: Following four weeks of Ashwagandha supplementation, the treatment group is expected to exhibit reduced cortisol levels, improved Aberrant Behavior Checklist (ABC) scores, and decreased stress-related behaviors, reflecting its anxiolytic effects.

METHODS: Forty-two adult participants with ASD and …

Dural Venous Sinus Thrombosis: Be Careful When You Sneeze, Arsam F. Nadeem

Rowan-Virtua Research Day

Dural venous sinus thrombosis (DVST) is a rare but potentially life-threatening condition that accounts for approximately 0.5–1% of all strokes. It is often associated with hypercoagulable states, infections, malignancies, and systemic inflammatory diseases. Clinical presentations are highly variable and can include headaches, focal neurological deficits, seizures, and altered mental status. Given its nonspecific symptoms, DVST remains a diagnostic challenge. This report presents a case of a young male who developed a persistent headache and had transient speech changes and was ultimately diagnosed with a dural venous sinus thrombosis.

Case Report: Haemophilus Influenzae Meningitis In A 65 Year Old Female, Kaywan Saed, Russell Mordecai

Rowan-Virtua Research Day

We report a case of a 65-year-old female who presented with fever, altered mental status, and neck stiffness. Cerebrospinal fluid (CSF) analysis confirmed Haemophilus influenzae meningitis. The differential diagnosis of bacterial meningitis in older adults is broad and includes Streptococcus pneumoniae, Neisseria meningitidis, Listeria monocytogenes, and Haemophilus influenzae. However, in the post-Hib vaccine era, non-typeable H. influenzae has emerged as a significant cause of invasive disease in older adults, particularly in those with underlying comorbidities.

Older patients often present with atypical symptoms, which may delay diagnosis and treatment. In this case, early recognition and prompt administration of empiric antibiotic therapy …