Neurology Commons^™

Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md

Medical Student Research Symposium

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disease characterized by cerebral venous malformations leading to early damage of affected brain regions. Clinical symptoms include seizures, motor and cognitive impairment. Most SWS patients have unilateral brain involvement, and previous studies reveal substantial neurological plasticity in some of them. Some children with left-hemispheric damage demonstrate, paradoxically, preserved verbal functions and reduced nonverbal functions (a “crowding” effect), suggesting contralateral functional reorganization from damaged cortical regions. We evaluated the incidence as well as clinical and imaging correlates of such functional reorganization/crowding.

Methods: Forty-six patients (age: 2.5-24 years) with unilateral SWS underwent neurocognitive evaluations …

Intranasal Delivery Of Human Olfactory Stem Cells In Sci Treatment, Muhammad Dawood Tarar, Alexander Hayes, Camera Dockery, Alexander Weiss, Marwa Elgirsg, Medha Guduguntla, Jean Peduzzi-Nelson

Medical Student Research Symposium

Background:

Olfactory stem cells hold great promise as a treatment for neural injury and disease. Two types of stem cells are known to be present in the olfactory mucosa – basal epithelial cells and mesenchymal cells in the lamina propria. Basal epithelial cells, under stimulation of mesenchymal cells, are known to differentiate into neurons^1,2. Among other immunomodulatory functions³, mesenchymal cells are also observed to differentiate into neurons. Improvement with olfactory stem cells is observed in various animal models, including head injury⁴, nerve repair^5,6, and Alzheimer’s disease⁷. The purpose of this …

Breaking The Synaptic Vesicle Cycle: Mechanistic Insights Into Presynaptic Dysfunctions In Epilepsy, Kevin Jiang, Lu-Tang Yang, Mingshan Xue

Duncan NRI Faculty and Staff Publications

Synaptic dysfunction is a hallmark of many neurological disorders including epilepsy. An increasing number of epilepsy-causing pathogenic variants are being identified in genes encoding presynaptic proteins that affect every step of the synaptic vesicle cycle, from vesicle loading, tethering, docking, priming, calcium sensing, fusing, to recycling. These different molecular dysfunctions result in converging impairment of presynaptic neurotransmitter release, yet lead to diverse epileptic disorders. This review focuses on representative monogenic epileptic disorders caused by pathogenic variants of key presynaptic proteins involved in different stages of the synaptic vesicle cycle: SYN1 (vesicle pool regulation), STXBP1 (vesicle docking, priming, and fusion), and …

De Novo Variants In Cdkl1 And Cdkl2 Are Associated With Neurodevelopmental Symptoms, Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja, Stephanie Bivona, Wendy K Chung, Shinya Yamamoto, Michael F Wangler, Shane Mckee, Mustafa Tekin, Hugo J Bellen, Oguz Kanca

Duncan NRI Faculty and Staff Publications

The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins. These individuals present with overlapping symptoms, including global developmental delay, intellectual disability, childhood-onset epilepsy, dyspraxia, and speech deficits. We also identified two individuals with de novo missense variants in CDKL1 in the published Deciphering Developmental Disorders (DDD) and GeneDx …

A Heart Full Of Nails: Complex Management Of Multiple Nail Gun Cardiac Injuries, Shaun Abid Md, Stuart Zarich

Posters

A 54-year-old male presented after a suicide attempt, suffering severe cardiac and extracardiac injuries from firing a nail gun into both temples (Figure 1A) and his chest. Imaging showed six 5cm nails embedded in his heart: two in the left ventricle, two in the right ventricle, one traversing the ascending aorta into the left atrium, and one entering the right ventricle from the left parasternal chest wall (Figure 1B, C, D). These injuries resulted in hemorrhagic pericardial effusion with tamponade, acute aortic regurgitation, mitral valve/pulmonary artery perforations, and a ventricular septal defect.

Reevaluating Informed Consent: Integrating Shared Decision-Making Into Spinal Surgery For Better Patient Outcomes., Jeffrey N Wang, Mohamed A Elhakeem, Matthew J Mesimer, Paul G Mastrokostas, Salman Ahmad, Tim Reed, Brandon Klein, Lucas E Bartlett, Adam D Bitterman, Andrew Megas

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Study Design: Narrative review.

Objectives: The objectives of this study were to answer the following questions: (1) What is the quality of informed consent in spine surgery, including both neurosurgery and orthopaedic spine surgery? (2) What limitations impede the ability of surgeons to engage in effective shared decision-making (SDM) and obtain adequate informed consent? (3) What strategies and solutions may improve the quality of informed consent and SDM? (4) What factors decrease the incidence of litigation in spine surgery?

Methods: N/A.

Results: SDM is a collaborative process where patients are involved in their treatment choices through open communication about risks, …

Age-Associated Proteins Explain The Role Of Medial Temporal Lobe Networks In Alzheimer’S Disease, Adam Turnbull, Yejin Kim, Kai Zhang, Xiaoqian Jiang, Zihuai He, Victor W Henderson, F Vankee Lin

Faculty, Staff and Student Publications

The structural connectivity (SC) of the medial temporal lobe and its associated cortical anterior temporal and posterior medial networks (MTL-AT-PM) is linked to pathologies and memory decline in Alzheimer's disease (AD). However, neuroimaging analyses cannot tell us how SC changes occur in AD at the molecular level and do not provide a means of intervening to slow/prevent pathology-related changes in MTL-AT-PM SC. The current study aimed to understand how and where AD-related changes occur within MTL-AT-PM using proteomics. We used a 4-step approach in 101 older adults from a local sample, aiming to understand how proteins and SC in combination …

De Novo Variants In Rybp Are Associated With A Severe Neurodevelopmental Disorder And Congenital Anomalies, Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, Jill A Rosenfeld, Sandra Von Hardenberg, Anke Bergmann, Manuela Friederike Richter, Malgorzata Rydzanicz, Rafal Ploski, Agnieszka Stembalska, Wendy K Chung, Rebecca R Hernan, Foong Y Lim, Theresa Brunet, Steffen Syrbe, Boris Keren, Solveig Heide, David R Murdock, Hongzheng Dai, Fan Xia, Shamika Ketkar, Brian Dawson, Vinodh Narayanan, Hillary K Graves, Undiagnosed Diseases Network, Michael F Wangler, Carlos Bacino, Brendan Lee

Duncan NRI Faculty and Staff Publications

Purpose: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of the noncanonical Polycomb Repressor Complex 1; however, its role in disease is unclear.

Methods: Functional consequences of RYBP variants were assessed using in vitro cellular and in vivo Drosophila melanogaster studies.

Results: We described 7 individuals with heterozygous de novo variants of RYBP and their clinical findings, including severe developmental delay, dysmorphisms, and multiple congenital anomalies. We showed that all single-nucleotide variants in RYBP localize to the N-terminal domain of …

Glucose Uptake In Pigment Glia Suppresses Tau-Induced Inflammation And Photoreceptor Degeneration, Mikiko Oka, Sho Nakajima, Emiko Suzuki, Shinya Yamamoto, Kanae Ando

Duncan NRI Faculty and Staff Publications

Brain inflammation contributes to the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease (AD). Glucose hypometabolism and glial activation are pathological features seen in AD brains; however, the connection between the two is not fully understood. Using a Drosophila model of AD, we identified that glucose metabolism in glia plays a critical role in neuroinflammation under disease conditions. Expression of human MATP (hereafter referred to as Tau) in the retinal cells, including photoreceptor neurons and pigment glia, causes photoreceptor degeneration accompanied by the formation of dark-stained round inclusion-like structures and swelling of the lamina cortex. We found that inclusion-like structures …

Alpha-Synuclein Phosphomimetic Y39e And S129d Knock-In Mice Show Cytosolic Alpha-Synuclein Localization Without Developing Neurodegeneration Or Motor Deficits, Youngdoo Kim, Bhupesh Vaidya, Joseph Mcinnes, Huda Y Zoghbi

Duncan NRI Faculty and Staff Publications

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms. Its pathological hallmarks include the accumulation of misfolded alpha-synuclein (α-Syn) in Lewy bodies and Lewy neurites. Phosphorylation of α-Syn is a prominent feature of these inclusions, but its role in disease pathogenesis remains unclear. To identify the role of α-Syn phosphorylation in synucleinopathy, we generated two Snca knock-in (KI) mouse models carrying phosphomimetic mutations at SncaY39 or SncaS129 (Snca^Y39E or Snca^S129D) which manipulated epitopes phosphorylated in the PD brain. Both Snca^Y39E and Snca^S129D KI mice displayed increased α-Syn phosphorylation, enhanced …

Cerebral Air Embolism: Process Change With Unintended Consequences., J J Baumann, Michelle Hill, Amy Swank, Ricky Medel

Neuroscience Articles

INTRODUCTION: During a cerebrovascular procedure, diligent care is made to ensure no air is present in lines and connectors. Should air enter the cerebral vasculature, cerebral air emboli can cause worsening neurological outcome or death. This communication outlines how a process change of refrigerating mixed heparin for storage lead to the presence of unintentional air, or off-gassing of the fluid.

MATERIAL & METHOD: The off-gassing phenomenon was noted during procedure. Various hypotheses were considered, including fluid preparation and manufacturing defects of lines and tubes. Further investigation identified a new process in mixing of heparin bags that were then refrigerated. The …

Staged Screening Identifies People With Biomarkers Related To Neuronal Alpha-Synuclein Disease, Ethan G Brown, Lana M Chahine, Andrew Siderowf, Caroline Gochanour, Ryan Kurth, Micah J Marshall, Chelsea Caspell-Garcia, Michael C Brumm, Craig E Stanley, Monica Korell, Bridget Mcmahon, Maggie Kuhl, Kimberly Fabrizio, Laura Heathers, Luis Concha-Marambio, Claudio Soto, Sohini Chowdhury, Christopher S Coffey, Tatiana M Foroud, Tanya Simuni, Kenneth Marek, Caroline M Tanner

Faculty, Staff and Student Publications

Objective: Remote identification of individuals with severe hyposmia may enable scalable recruitment of participants with underlying alpha-synuclein aggregation. We evaluated the performance of a staged screening paradigm using remote smell testing to enrich for abnormal dopamine transporter single-photon emission computed tomography imaging (DAT-SPECT) and alpha-synuclein aggregation.

Methods: The Parkinson's Progression Markers Initiative (PPMI) recruited participants for the prodromal cohort who were 60-years and older without a Parkinson's disease diagnosis. Participants were invited to complete a University of Pennsylvania Smell Identification Test (UPSIT) independently through an online portal. Hyposmic participants were invited to complete DAT-SPECT, which determined eligibility for enrollment in …

Statins And Middle Meningeal Artery Embolization: A Literature Review In The Treatment Of Chronic Subdural Hematoma, Basel Musmar, Joanna M. Roy, Samantha Spellicy, Stavropoula I. Tjoumakaris, Michael R. Gooch, Robert H. Rosenwasswer, David Hasan, Pascal Jabbour

Department of Neurosurgery Faculty Papers

Chronic subdural hematoma (cSDH) presents a multifaceted challenge in contemporary neurological practice, necessitating innovative therapeutic strategies. This comprehensive review explores the convergence of two promising interventions: statins and middle meningeal artery (MMA) Embolization. With cSDH incidence on the rise, particularly among the aging population and those with long-term anticoagulant usage, the traditional surgical avenues face limitations in recurrence rates and associated risk factors. Statins, heralded for their anti-inflammatory, vasculogenic, and angiogenic properties, are emerging as potential allies in cSDH management. Concurrently, MMA embolization offers a nuanced approach to target the neomembrane's blood supply, with evidence supporting its efficacy and safety. …

Spetzler-Martin Grade Iv Cerebral Arteriovenous Malformations In Adult Patients: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery, Salem M. Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Hamza Adel Salim, Basel Musmar, Christopher Ogilvy, Douglas Kondziolka, Adam A. Dmytriw, Kareem El Naamani, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Muhammed Amir Essibayi, Ufuk Erginoglu, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev D. Sen, Louis J. Kim, Omar Alwakaa, Christoph J. Griessenauer, Pascal Jabbour, Stavropoula I. Tjoumakaris, Jan-Karl Burkhardt, Robert M. Starke, Mustafa K. Baskaya, Laligam N. Sekhar, Michael R. Levitt, David J. Altschul, Neil Haranhalli, Malia Mcavoy, Abdallah Abushehab, Assala Aslan, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M. Srinivasan, Peng R. Chen, Spiros Blackburn, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman B. Patel, Amey Savardekar, Hugo H. Cuellar, Kathleen Dlouhy, Tarek El Ahmadieh, Michael Lawton

Department of Neurosurgery Faculty Papers

Spetzler-Martin Grade IV arteriovenous malformations (AVMs) are challenging due to high risks associated with both treatment and natural progression. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) in high-grade AVMs, analyzing obliteration rates, complications, and functional outcomes. A retrospective cohort of 96 patients treated with either microsurgical resection (33 patients) or SRS (63 patients) was analyzed. Propensity-score matching was employed to account for baseline variables such as AVM size (cm), preoperative embolization and rupture status. Primary endpoints included AVM obliteration, complication rates, and modified Rankin Scale (mRS) scores. After matching, 31 patients per group were analyzed. …

Management Of Parkinson's Disease Psychosis: First-Line Antipsychotic Selection And Rationale For Continuing, Combining, Or Switching, Stuart H. Isaacson, Henry Nasrallah, Rajesh Pahwa, Gustavo Alva, Daniel Kremens, Stephen M. Stahl

Department of Neurology Faculty Papers

INTRODUCTION: The past decade has seen a paradigm shift in the evaluation and management of Parkinson's disease psychosis (PDP), with the first approval of an antipsychotic in the US in 2016. An evidence-based review by the Movement Disorder Society found pimavanserin and clozapine to be clinically useful, (low-dose) quetiapine to be possibly useful, and all other antipsychotics to be avoided due to motor worsening. Clozapine and quetiapine use can be limited by provoking Parkinson's disease (PD) nonmotor symptoms of somnolence and hypotension. Quetiapine may also be limited by its risk in cognitive impairment. Pimavanserin is not associated with these symptoms. …

Effect Of Eye Position On Variability Of The Vestibulo-Ocular Reflex, Kathryn Mozzochi, Amsal Madhani, Michael D. Balkwill, Divya Chari, Faisal Karmali

Tower Health Research Day

No abstract provided.

Dyke-Davidoff-Masson Syndrome: A Rare Cause Of Drug Refractory Epilepsy In An Adult, Paresh Zanzmera, Vaidehi Chauhan, Tvisha Patel, Jaineel Patel, Ankit Dumaswala, Kinjal Shah

Tower Health Research Day

No abstract provided.

Distinct Patterns Of Pv And Sst Gabaergic Neuronal Activity In The Basal Forebrain During Olfactory-Guided Behavior In Mice, Elizabeth H Moss, Evelyne K Tantry, Elaine Le, Pey-Shyuan Chin, Priscilla Ambrosi, Katie L Brandel-Ankrapp, Benjamin R Arenkiel

Duncan NRI Faculty and Staff Publications

Sensory perception relies on the flexible detection and interpretation of stimuli across variable contexts, conditions, and behavioral states. The basal forebrain (BF) is a hub for behavioral state regulation, supplying dense cholinergic and GABAergic projections to various brain regions involved in sensory processing. Of GABAergic neurons in the BF, parvalbumin (PV) and somatostatin (SST) subtypes serve opposing roles toward regulating behavioral states. To elucidate the role of BF circuits in sensory-guided behavior, we investigated GABAergic signaling dynamics during odor-guided decision-making in male and female mice. We used fiber photometry to record cell type-specific BF activity during an odor discrimination task …

Image Quality Analysis Of Head Cts Obtained On A New Portable Scanner Compared To Stationary Ct, Mara M. Kunst, Juan E. Small, Sebastian E. Flacke, Joseph D. Burns, Maximilian Smith, Christoph D. Wald

The Lahey Journal

Background/Purpose: The use of mobile head CT scanning in the ICU setting has both clinical and economic advantages, particularly if able to provide image quality close or equal to fixed CT scanners.

The purpose of the study is to evaluate the image quality of a new portable CT scanner, compared to a fixed CT platform.

Materials/Methods: Inpatients (n=11), age> 60 requiring head CT evaluation were enrolled and consented to obtain an additional head CT on the portable CT, following their fixed exam.

Nine patients were able to complete the study; seven patients received duplicate exams with matched imaging technique, and …

Stingers—A Review Of Current Understanding And Management, Teleale Gebeyehu, James Harrop, Stavros Matsoukas, Alexander Vaccaro

Department of Neurosurgery Faculty Papers

Abstract: A stinger is the transient sensory and motor loss of one upper extremity caused by a stretch or compression injury to the brachial plexus or the exiting cervical nerve roots. Athletes from contact sports like American football, rugby, wrestling, and horseback riding are most affected. Given today’s competitive athletic culture and recent advancements in sports medicine, understanding the clinical, diagnostic, and therapeutic aspects of stingers is crucial. Thus, this narrative review highlights current knowledge of pathology, clinical features, diagnostic modalities, radiologic measurements, management, rehabilitation, and return-to-play protocols. Recent and prominent English publications on adult athletes revealed that the brachial …