Neurology Commons^™

Artificial Intelligence Models For Automated And Semiautomated Analysis And Interpretation Of Clinical Electroencephalography, Sándor Beniczky, Birgit Frauscher, Fábio Nascimento, Shobi Sivathamboo, Catalina Rojas, Michael Sperling, Samden Lhatoo, Philippe Ryvlin, Levin Kuhlmann

Department of Neurology Faculty Papers

Electroencephalography is the most commonly used diagnostic tool for epilepsy. However, interpreting electroencephalograms (EEGs) requires expertise that is not widely available. Advances in digital technology and wearables have enabled large-scale EEG recording, generating vast amounts of data that cannot be managed through traditional visual interpretation by experts. Artificial intelligence (AI) has the potential to augment human expertise and reduce workloads. The application of artificial neural networks in analysing clinical EEG recordings has led to major breakthroughs, bringing AI-based EEG interpretation closer to clinical implementation. In this Review, we summarise the most important research and development results in this field from …

Predictors Of Complete Obliteration And Favourable Outcome After Single-Modality Treatment For Low-Grade Arteriovenous Malformations: A Multicentre Study, Angelica Fuentes, Salem Tos, Natasha Ironside, Georgios Mantziaris, Yuki Shinya, Basel Musmar, Hamza Adel Salim, Nimer Adeeb, Christopher Ogilvy, Douglas Kondziolka, Ali Alaraj, Min Park, Adam Dmytriw, Hussein Zeineddine, Finn Mccarthy, Hussam Abou-Al-Shaar, Ahmed Abdelsalam, Mustafa Baskaya, Cagdas Ataoglu, Anthony Sanchez-Forteza, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Howard Riina, Arwin Rezai, Sahin Hanalioglu, Ufuk Erginoglu, Johannes Pöppe, Davide Simonato, Yan-Lin Li, Sandeep Kandregula, Dhairya Lakhani, Christoph Griessenauer, Rahim Abo Kasem, Alejandro Spiotta, Ajit Puri, Jasmeet Singh, Anna Luisa Kuhn, Jan Karl Burkhardt, Robert Starke, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Paul Foreman, Osama Zaidat, Mohammad Almajali, Hakeem Shakir, Alfred Pokmeng See, Adib Abla, Aashay Patel, Andrew Nguyen, Matthew Koch, Visish Srinivasan, Peng Roc Chen, Spiros Blackburn, Ketan Bulsara, Peter Kan, Louis Kim, Omar Choudhri, Stavropoula Tjoumakaris, Pascal Jabbour, Amey Savardekar, Hugo Cuellar, Michael Lawton, Bharat Guthikonda, Jacques Morcos, Jason Sheehan

Department of Neurology Faculty Papers

INTRODUCTION: Patient and arteriovenous malformation (AVM) characteristics that portend success after treatment for low-grade brain AVMs remain unknown.

PATIENTS AND METHODS: We utilised the MISTA multicentre registry to identify patients with Spetzler-Martin (SM) grade I or II AVMs treated with stand-alone curative-intent intervention (resection, stereotactic radiosurgery [SRS] or endovascular embolisation). Bivariate and multivariable analyses were performed to identify patient and AVM characteristics predictive of complete obliteration or favourable outcome (complete obliteration without new permanent deficit or post-treatment haemorrhage).

RESULTS: A total of 522 patients were included (292 microsurgery, 152 SRS, 78 embolisation). Complete obliteration rates differed between microsurgery (95.9%), SRS …

Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier

Duncan NRI Faculty and Staff Publications

Purpose: Recurrence risk estimates underpin meningioma research, including molecular classification and clinical trial benchmarking, yet are often based on retrospective or historical data. The aim of this study was to assess the variation of recurrence risk estimates across calendar periods, WHO classification editions, geographical settings, and healthcare systems.thetermine METHODS: We analyzed 4,111 patients with primary WHO-1/-2 meningiomas from 31 centers in 15 countries (1990-2019). Recurrence was defined according to local radiological assessment. The 5- and 10-year recurrence risks were estimated using regression standardization with inverse probability of censoring weights, adjusting for key clinical, surgical, and histopathological variables.

Results: Recurrence risk …

Digital Markers For Passive Remote Monitoring Of Bipolar Disorder: Systematic Review, Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza

Duncan NRI Faculty and Staff Publications

Background: Bipolar disorder (BD) features episodic shifts among mania, hypomania, depression, mixed states, and euthymia. Timely detection of mood transitions is difficult due to infrequent clinical touchpoints. Digital health technologies, including wearables and smartphones, offer a unique opportunity to passively and continuously monitor behavior and physiology that could reflect underlying mood dynamics in real-world settings.

Objective: This study aimed to systematically review passively collected digital markers for BD mood states, characterize devices/modalities and analytic approaches, appraise risk of bias, and identify design gaps and priorities for clinical translation.

Methods: Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) …

Th17 Effector Cytokines Induce Shared And Distinct Microglial And Endothelial Cell Responses In A Mouse Model For Post-Streptococcal Encephalitis, Charlotte Wayne, Uğur Akcan, Travis Faust, Violeta Durán-Laforet, Danny Jamoul, Luca Bremner, Nicole Ampatey, Büşra Akcan, Sarah Ho, Bogoljub Ciric, Shannon Delaney, Wendy Vargas, Susan Swedo, Vilas Menon, Dorothy Schafer, Tyler Cutforth, Dritan Agalliu

Department of Neurology Faculty Papers

Group A Streptococcus (GAS) infections cause neuropsychiatric complications in children, but the mechanisms linking peripheral infection to brain dysfunction remain unclear. Using mouse genetics, single-cell RNA sequencing, and spatial transcriptomics, we show that GAS infections induce inflammatory transcriptional programs in microglia and brain endothelial cells (BECs), accompanied by loss of blood-brain barrier (BBB) gene expression in female mice. Spatial transcriptomic analyses reveal that GAS-responsive microglia localize near infiltrating CD4+ T cells. Several microglial chemokines induced in mice are elevated in sera from affected patients. Deletion of GM-CSF in CD4⁺ T cells partially reduces microglial chemokine gene expression, without restoring BBB …

Translational Reading Frame Predicts The Pathogenicity Of C-Terminal Frameshift Deletions In Mecp2, Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur Von Bock Und Polach, Tricia Mathieson, Benjamin P Kleinstiver, Huda Y Zoghbi, Adrian Bird

Duncan NRI Faculty and Staff Publications

Mutations in the MECP2 gene cause the severe neurological disorder Rett syndrome. A cluster of frameshift-causing C-terminal deletions (CTDs) removes ~100 amino acids and accounts for approximately 10% of RTT-causing mutations. Their pathogenicity is unexpected because this C-terminal domain is dispensable in mice. Analysis of pathogenic and benign human MECP2 variants reveals that some individuals with apparently typical CTDs do not develop Rett syndrome, confirming that C-terminal truncations are not intrinsically pathogenic. Using human sequence data and mouse models we show that pathogenicity results from a marked reduction in MeCP2 levels and depends on the presence of a proline proline …

Young-Onset Stroke In The Uae: A Single-Centre Retrospective Analysis Of Risk Factors And Outcomes, Sobia Siddiq, Saryia Adra, Kamel A. Samara, Batool Aldaher, Mohamad Emad Aldeen Mahfouz, Nour Sakan, Fathima Musfira, Roomiyah Riyaz Assadi, Ahlam Mohamed Almarzooqi, Hiba Jawdat Barqawi, Eman Abu-Gharbieh

Abington Jefferson Health Papers

BACKGROUND: Young-onset stroke represents a growing public health concern, yet data from the United Arab Emirates (UAE) remain limited. This study aimed to examine the risk factors and clinical outcomes associated with young-onset stroke in the UAE.

METHODS: A retrospective chart review was conducted on 419 patients aged below 50 years who were admitted at Al Qassimi Hospital, Sharjah, UAE, with a diagnosis of stroke between 2016 and 2022. Data on demographics, comorbidities, stroke subtype, management, and outcomes were collected and analyzed using Python-based statistical libraries.

RESULTS: The study population comprised predominantly of male individuals (78.28%), with most patients originating …

Shared Neural Geometries For Bilingual Semantic Representations In Human Hippocampal Neurons, Xinyuan Yan, Ana G Chavez, Melissa Franch, Kalman A Katlowitz, Ivy Gautam, Brian Kim, Aaditya Krishna, Aadit Shrivastava, Katie Van Arsdel, James Belanger, Assia Chericoni, Taha Ismail, Elizabeth A Mickiewicz, Danika Paulo, Hanlin Zhu, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Eleonora Bartoli, Nicole R Provenza, Seng Bum Michael Yoo, Benjamin Y Hayden, Sameer A Sheth

Duncan NRI Faculty and Staff Publications

The human brain has the remarkable ability to comprehend and express similar concepts in multiple languages. To understand how it does so, we examined responses of hippocampal neurons during passive listening, directed speaking, and spontaneous conversation in both English and Spanish in a small group of balanced bilinguals. We found a small number of putative "cross-language neurons," whose responses to equivalent words (e.g., "tierra" and "earth") are correlated. However, neurons' semantic tunings differed substantially by language, suggesting language-specific neural implementations. Instead, the crucial driver of translation was a preserved geometric organization of neural responses between the two languages, one that …

Endoscopic Versus Catheter-Based Minimally Invasive Evacuation Of Spontaneous Supratentorial Intracerebral Hemorrhage: A Systematic Review And Meta-Analysis, Shaan Patel, Shiva A Nischal, Kush M Kale, Angelette Mendonca, Keenan Piper, Pious D. Patel, Michael R. Gooch, Stavropoula Tjoumakaris, Pascal M. Jabbour

Department of Neurosurgery Faculty Papers

Minimally invasive surgery (MIS) for spontaneous supratentorial intracerebral hemorrhage (sICH) includes endoscopic evacuation and catheter-based evacuation (aspiration or drainage ± thrombolysis), but comparative performance remains uncertain. We performed a systematic review and meta-analysis comparing MIS approaches. PubMed, Embase, and CENTRAL were searched (December 2025) for studies in adults undergoing endoscopic or catheter-based MIS for supratentorial sICH. Random-effects meta-analysis was conducted. Prespecified subgroup analyses stratified catheter-based techniques by thrombolysis use. Risk of bias and certainty of evidence was assessed. Twenty-nine studies (8221 patients; 5041 endoscopic; 3180 catheter-based) were included. Endoscopic evacuation was associated with lower mortality (RR 0.64; 95% CI: 0.47–0.87; …

Defining The Value Of Elective Lumbar Fusion: A Systematic Review Of Existing Methodologies And Framework For The Operative Value Index, Advith Sarikonda, Anthony Chen, Theo S. Biddle, Danyal A. Quraishi, Preston Carey, Arbaz A. Momin, Matthews Lan, Dwight Mitchell Self, Ashmal S. Kabani, Ahilan Sivaganesan

Department of Neurosurgery Faculty Papers

BACKGROUND: Despite wide variation in the outcomes and costs of lumbar fusion, few studies have integrated these domains together within a single metric to assess "value" (outcomes achieved per dollar spent). In this review, we sought to 1) characterize existing metrics of cost-effectiveness for lumbar fusion, 2) evaluate all applications of time-driven activity-based costing (TDABC) in spine surgery, and 3) outline the conceptual foundation for a standardized Operative Value Index (OVI).

METHODS: Two PRISMA-concordant systematic reviews were performed on PubMed and Scopus databases. The first review examined all studies which reported a cost-effectiveness metric for lumbar fusion. The second review …

Extending Genome-Wide Association Studies To Admixed Cohorts With High Degrees Of Relatedness, Taotao Tan, Alejandra Vergara-Lope, José Jaime Martínez-Magaña, Nirav N Shah, Yi-Sian Lin, Kai Yuan, Jaime Berumen, Jesus Alegre-Díaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Joel Gelenter, Janitza L Montalvo-Ortiz, Wei Zhou, Jason M Torres, Elizabeth G Atkinson

Duncan NRI Faculty and Staff Publications

Admixed populations comprise a large portion of the human population worldwide, but are often excluded from genome-wide association studies (GWASs) due to analytic challenges. Our group developed Tractor, a local-ancestry-informed GWAS tool designed for admixed samples that produces accurate ancestry-specific effect sizes and boosts the discovery power to identify ancestry-enriched loci. However, Tractor operates under an assumption of unrelated samples. Here, to address this gap, we propose Tractor-Mix, which allows for well-calibrated association studies in datasets containing admixed samples with relatedness. Extensive simulations show that this method is competitive with other state-of-the-art approaches that do not produce ancestry-specific results. Empirical …

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin

Duncan NRI Faculty and Staff Publications

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

Hippo Signaling Regulates Cuticle Pigmentation And Dopamine Metabolism In Drosophila, Shelley B Gibson, Samantha L Deal, Ye-Jin Park, Bo Sun, Yanyan Qi, Jung-Wan Mok, Hyung-Lok Chung, Hongjie Li, Shinya Yamamoto

Duncan NRI Faculty and Staff Publications

Pigmentation plays multiple important roles in development, physiology and evolution. Melanization of the insect cuticle requires dopamine as a precursor of melanin and involves key enzymes in dopamine biosynthesis including Tyrosine hydroxylase (TH) and Dopa decarboxylase (Ddc). Some studies have hinted that disruption of the evolutionarily conserved Hippo signaling pathway, which has been primarily studied in the context of tissue growth, may lead to changes in cuticle pigmentation in the fruit fly Drosophila melanogaster. However, to our knowledge, there have not been any systematic investigations into their potential mechanistic links. In this study, we identified that all genes that comprise …

Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

AimTo evaluate whether initiation of calcitonin gene-related peptide (CGRP) monoclonal antibodies (mAbs) was non-inferior to initiation of onabotulinumtoxinA with respect to the hazard of ischemic stroke or transient ischemic attack (IS + TIA) in a real-world cohort of adults with migraine.MethodsWe conducted a retrospective, active-comparator, new-user pharmacoepidemiology study using the NIH All of Us Research Program Registered Tier Dataset (v8). Adults with migraine initiating CGRP mAbs (erenumab, fremanezumab, galcanezumab, eptinezumab) were compared with initiators of onabotulinumtoxinA from January 2018 through September 2023. The primary outcome was IS + TIA occurring more than 90 days after treatment initiation. Inverse probability of …

Long-Term Outcomes And Symptom Response Following Hypofractionated Stereotactic Radiotherapy For Intracranial Meningioma, Ryan Shah, Bs, Nilanjan Haldar, Shray Jain, Lauren Holt, Sophia Shah, Hamail Iqbal, Anthony Chen, Christopher J. Farrell, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi

Department of Neurology Faculty Papers

Objective: Various radiation dosing regimens exist due to tumor size, location, and patient preference. This study evaluated the long-term outcomes of patients with benign meningiomas treated with hypofractionated stereotactic radiotherapy (SRT)at our institution.

Methods: This is a retrospective review of all patients diagnosed with meningioma at our institution who received hypofractionated SRT (5 fractions). Clinical data, including tumor location, size, prior treatments, demographics, radiation dosimetric information, tumor response, and survival were collected. Kaplan-Meier curves were used to assess local control (LC). Acute and late toxicities were evaluated. Patients were included for analysis if they had at least one post-treatment magnetic …

Hp1bp3 Loss Links Chromatin Reorganization To Metabolic Vulnerability In Glioma, Brittney Lozzi, Taylor A Gatesman, Pushan Dasgupta, Debosmita Sardar, Yeunjung Ko, Chenyu Mao, Hsiao-Chi Chen, Rachel N Curry, Dongjoo Choi, Carrie A Mohila, Melissa L Bondy, Ganesh Rao, Marco Gallo, Sameer Agnihotri, Benjamin Deneen

Duncan NRI Faculty and Staff Publications

High-grade gliomas (HGGs) are aggressive brain tumors with poor prognosis, driven in part by metabolic and epigenetic adaptations. Methionine metabolism supports HGG growth by supplying S-adenosylmethionine for methylation reactions, yet how nutrient availability influences chromatin organization in HGG remains incompletely understood. Using an immunocompetent mouse model of HGG, we found that dietary methionine restriction reduced tumor proliferation, extended survival, and induced partial nuclear inversion. We identified Hp1bp3 as a key regulator of tumor growth that functions by interacting with nuclear tethering proteins to mediate chromatin reorganization. Loss of Hp1bp3 results in the upregulation of histone demethylases leading to selective depletion …

Intrathecal Antibody Synthesis - Reiber Method Revisited, John J. Halperin, Dane Granger

Department of Neurology Faculty Papers

BACKGROUND: CSF immunoglobulin (IgG) often informs diagnosis in CNS inflammatory disease- qualitatively (oligoclonal bands; OCBs), or quantitatively (CSF: serum IgG: albumin, e.g. IgG index). Most US laboratories estimate excess CSF IgG using linear models, most in Europe, Reiber's hyperbolic model - the latter often also incorporated into CSF pathogen-specific immunoreactivity calculations. We compared Reiber hyperbolic and linear approaches.

METHODS: Required data were available for 1,872 samples, Lyme-specific data for 1,365. We compared linear and Reiber's hyperbolic models to determine which better describes normal CSF: serum IgG/albumin, assessed correlations with OCBs using ROC analysis and compared Lyme-specific antibody indices (AI) by …

Prevalence And Aetiology Of Cerebral Palsy Among Nigerian Children: A Systematic Review And Meta-Analysis., Udochukwu Michael Diala, Aderonke O. Uhunmwangho-Courage, Fatima Abdullahi, Paul Ikhurionan, Caitlin Bakker, Duke Appiah, David Danjuma Shwe, Rose N. Gelineau-Morel, Kabiru Gurama, Olugbenga Akinyemi Ofakunrin, Angela Mcgillivray, Gabriel E. Ofovwe, Tina Slusher

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Nigeria is among the leading countries contributing to the burden of cerebral palsy. Cerebral palsy (CP) is the commonest physical disability in childhood, accounting for 16.2% of child neurology referrals. Many cases of CP are preventable with simple interventions such as neonatal resuscitation and effective phototherapy. Lack of reliable data on the burden of disease limits comprehensive national policy directed to the prevention, holistic care and rehabilitation of patients with cerebral palsy in Nigeria. Therefore, to effectively address this problem, this study aimed to describe the pooled prevalence of CP in Nigeria, its potential causes and types.

METHODS: This …

Silk Vista Baby Versus Pipeline Embolization Device For Unruptured Distal Anterior Cerebral Artery Aneurysms: A Multicenter Propensity-Weighted Comparative Study., Valerio Da Ros, Frédéric Clarençon, Adam A. Dmytriw, Pascal Jabbour Md, Marios Psychogios, Peter Sporns, Ajit S. Puri, Ameer E. Hassan, Oktay Algin, Markus A. Möhlenbruch, Mauro Bergui, Oded Goren, Gregoire Boulouis, Takeshi Morimoto, Raoul Pop, Joanna Wk Ho, Virginia Pujol Lereis, Jared Cooper, Giancarlo Salsano, Alessandro Sgreccia, Arturo Consoli, Eytan Raz, Julien Burel, Khawaja Muhammad Baqir Hassan, Zhe Ji, Riitta Rautio, Maria Ruggiero, Federico Sabuzi, Stefania Proietti, Joseph Domenico Gabrieli, Michael Levitt, Antonio Armando Caragliano, Christophe Cognard, Gaultier Marnat, Nicola Limbucci, Mariangela Piano, Alexis Guedon, Andrea Romi, Fortunato Di Caterino, Mykola Vyval, Adrien Guenego, Mohamad Abdalkader, Thanh Nguyen, Vitor Mendes Pereira, Ocilio Ribeiro Goncalves, Erwah Kalsoum, Alessandro Pedicelli, Andrea M Alexandre, Luca Scarcia

Department of Neurosurgery Faculty Papers

BACKGROUND: Flow diversion is effective for unruptured distal anterior cerebral artery (DACA) aneurysms, yet comparative data between the Silk Vista Baby (SVB) and Pipeline Embolization Device (PED) in this challenging territory remain scarce.

METHODS: We conducted a retrospective multicenter study using the CRETA Registry, including consecutive patients with unruptured DACA aneurysms treated with SVB or PED. The primary endpoint was complete angiographic occlusion (O'Kelly-Marotta grade D). Secondary outcomes included procedural characteristics, clinical outcome (modified Rankin Scale), and complications. Overlap weighting was applied to account for non-randomized treatment allocation. Predictors of occlusion were explored using penalized logistic regression. A sensitivity analysis …

International Multi-Center Study To Quantify The Effect Of Deep Venous Drainage After Surgical Resection Of Spetzler-Martin Grade Ii-Iii Brain Arteriovenous Malformations, Avi A. Gajjar, Rashad Jabarkheel, Mohamed M. Salem, Basel Musmar, Sandeep Kandregula, Hammam Abdalrazeq, Nimer Adeeb, Assala Aslan, Nathan Ramachandran, Stavropoula Tjoumakaris, Hamza Adel Salim, Adam A. Dmytriw, Christopher S. Ogilvy, Mustafa K. Baskaya, Douglas Kondziolka, Jason Sheehan, Howard Riina, Abdallah Abushehab, Kareem El Naamani, Najib Muhammad, Ahmed Abdelsalam, Natasha Ironside, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Arwin Rezai, Omar Alwakaa, Pierce Davis, Salem M. Tos, Ufuk Erginoglu, Johannes Pöppe, Rajeev D. Sen, Alan S. Boulos, John C. Dalfino, Christoph J. Griessenauer, Robert M. Starke, Laligam N. Sekhar, Michael R. Levitt, David J. Altschul, Neil Haranhalli, Malia Mcavoy, Hussein A. Zeineddine, Adib A. Abla, Saman Sizdahkhani, Sravanthi Koduri, Michael R. Gooch, Robert H. Rosenwasswer Md, Christopher Stapleton, Matthew Koch, Peng R. Chen, Spiros Blackburn, Ketan Bulsara, Louis J. Kim, Omar Choudhri, Bryan Pukenas, Joshua S. Catapano, Darren Orbach, Edward Smith, Pascal J. Mosimann, Alexandra R. Paul, Pascal Jabbour, Ali Alaraj, Mohammad A. Aziz-Sultan, Aman B. Patel, Amey Savardekar, Christina Notarianni, Hugo H. Cuellar, Bharat Guthikonda, Jacques Morcos, Michael Lawton, Jan-Karl Burkhardt, Visish M. Srinivasan

Department of Neurosurgery Faculty Papers

Deep venous drainage (DVD) is considered a negative prognostic factor in AVM surgery, yet its effect on postoperative functional decline remains incompletely defined. This study evaluates whether DVD predicts worsened functional status after surgical resection of Spetzler-Martin Grade II-III AVMs. This retrospective multicenter study analyzed 129 patients with Spetzler-Martin Grade II-III AVMs across nine centers in North America and Europe who underwent primary surgical resection. We excluded cases with prior endovascular or stereotactic interventions. The primary outcome measured was poor functional status, defined as modified Rankin Scale (mRS) score 3-6 at last follow up. Among 129 patients with Spetzler-Martin Grade …

Use Of Tyrx Antibacterial Envelope In Inflatable Penile Prosthesis Surgery: A Prospective Pilot Study., Jack T. Rifkin, Julia A. Baran, Brian H. Im, Tej J. Desai, Jordan Dehoratius, Oleksandr Kolesnikov, Paul Chung

Department of Neurology Faculty Papers

BACKGROUND: Infection remains a major concern in inflatable penile prosthesis (IPP) surgery. Medtronic's TYRX Absorbable Antibacterial Envelope is a polypropylene mesh pocket delivering minocycline and rifampin for 7 days and fully absorbing in 9 weeks. It is currently FDA-approved for use with cardiac pacemakers and neuromodulation devices. There is no indication for use in IPP surgeries, particularly for enveloping the scrotal pump during implantation.

AIM: This pilot study evaluates the feasibility, safety, and early patient-reported outcomes with the use of the absorbable antibacterial envelope during IPP surgery.

METHODS: Fifteen men who underwent primary or revision IPP placement by a single …

Postapproval Study For Brain-Responsive Neurostimulation For Drug-Resistant Focal Epilepsy: Three-Year Efficacy And Interim Safety Results, Dawn Eliashiv, Vikram R. Rao, Barbara C. Jobst, Jerzy P. Szaflarski, John D. Rolston, Lesley C. Kaye, Taneeta Mindy Ganguly, Katie Bullinger, Patricia C. Dugan, David E. Burdette, Angela Y. Peters, Atif Sheikh, Kevin F. Haas, Dileep R. Nair, Lilit Mnatsakanyan, Imran H. Quraishi, Meriem K. Bensalem-Owen, Michael J. Doherty, Babak Razavi, Tiffany L. Fisher, Christopher T. Skidmore, Pradeep N. Modur, Tawnya M. Constantino, Vicenta Salanova, Andrew J. Cole, Olga Taraschenko, Angelica Rivera-Cruz, James W. Wheless, Nitin Tandon, Antoaneta Balabanov, Sami Aboumatar, Itzhak Fried, Cornelia Drees, Hae Won Shin, Zeenat Jaisani, Stephanie E. Maciver, Sanjay E. Patra, Edward F. Chang, Jon T. Willie, Ryder Gwinn, Travis Stoub, John M. Stern, Tami Crabtree, Cairn G. Seale, Sharon C. Mcfadden, Jacob F. Norman, Lise Johnson, Martha J. Morrell

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: Neuromodulation therapies are approved for the treatment of focal epilepsy based on data from randomized controlled trials (RCTs). After approval of a responsive direct brain stimulation device (The RNS System for focal epilepsy), the Food and Drug Administration required a prospective study to evaluate whether real-world safety and effectiveness differed from outcomes in the RCT.

METHODS: This open-labeled study enrolled adult participants who met the RNS System-approved indication for use. The primary effectiveness end point was median percent change in seizure frequency at 3 years of treatment. Interim safety is presented; the primary safety endpoint analysis will …

Machine Learning-Based Prediction Of Proximal Junctional Pathology After Adult Spinal Deformity Surgery: A Systematic Review And Diagnostic Test Accuracy Meta-Analysis, Shaan Patel, Shiva A. Nischal, Yi Hein Chai, Kush M. Kale, Kevin Hines, Joshua Pelta-Heller, Jack Jallo, James S. Harrop, Srinivas K. Prasad

Department of Neurosurgery Faculty Papers

BACKGROUND: Proximal junctional kyphosis (PJK) and failure (PJF) remain challenging and incompletely predictable adverse event following adult spinal deformity (ASD) surgery. Machine learning (ML) models have been proposed to improve risk stratification, but performance varies and clinical applicability remains uncertain. A systematic review and diagnostic test accuracy meta-analysis was performed to synthesize the predictive performance of ML-based models for proximal junctional pathology after ASD surgery.

METHODS: PubMed, Embase, and CENTRAL were searched from inception to February 2026. Studies developing or validating ML models predicting PJK or PJF following ASD surgery were included. Diagnostic performance was synthesized using random-effects models, pooling …

Genetic Analysis Of The X-Linked Adrenoleukodystrophy Gene Abcd1 In Drosophila Uncovers A Conserved Phenotype, Joshua Manor, Sharayu V Jangam, Hyung-Lok Chung, Pranjali Bhagwat, Jonathan C Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B Moser, Suzette M Huguenin, Michael F Wangler

Duncan NRI Faculty and Staff Publications

X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This disorder exhibits striking heterogeneity; some male patients develop an early childhood neuroinflammatory demyelination disorder, while other patients, including adult males and most affected female carriers, experience a chronic progressive myelopathy. Adrenocortical failure is observed in almost all male patients, with the age of onset varying, sometimes being the first diagnostic finding. The gene underlying this spectrum of disease encodes an ATP-binding cassette (ABC) transporter that …

Metabolic Dysfunction And Metabolic Management In Episodic Migraine, Delora E. Denney, Michael J. Marmura

Department of Jefferson Headache Center Papers and Presentations

PURPOSE OF REVIEW: Evidence suggests a significant link between migraine and metabolic syndrome,, especially in those with chronic or refractory migraine. Weight loss and exercise may effectively prevent migraine. Here, we review the evidence behind exercise and weight loss as migraine treatments.

RECENT FINDINGS: While metabolic syndrome and pain have long had a known association, only recently have strong studies demonstrated a higher risk of developing metabolic syndrome in people with migraine. Additionally, other sequelae of metabolic syndrome, obesity, hypertension, hypercoagulability, and diabetes also interplay with migraine. New medications like GLP-1 agonists may be a potential treatment for migraine as …

Eptinezumab In Treatment-Resistant Chronic Migraine: Four-Year Real-World Effectiveness And Treatment Persistence, Wan-Jen Hsieh, Kelly Nicol, Chai Ching Ng, Tsung-Wei Hou, Phillip Phan, Scott W. Keith, Brittany Heckel, Michael J. Marmura, Hsiangkuo Yuan

Department of Neurology Faculty Papers

AimTo evaluate 48-month real-world outcomes of eptinezumab users in chronic migraine (CM), including longitudinal effectiveness, treatment persistence, reasons for discontinuation, and post-discontinuation anti-calcitonin gene-related peptide (CGRP) treatment patterns.MethodsWe conducted a retrospective cohort study of 112 CM subjects initiating eptinezumab at a tertiary headache center between 2019 and 2021. Monthly headache days (MHD), migraine disability assessment (MIDAS), and average pain intensity (API) were extracted at baseline and every 6 months for up to 48 months using a predefined outcome form at each visit. Longitudinal changes were analyzed using generalized estimating equations (GEE) with an unstructured correlation matrix, adjusting for age, sex, …

Cerebellar Oligodendrocytic Α-Synuclein Pathology And Dentate Nucleus Neuronal Hypertrophy In Parkinson’S Disease, Diego Iacono, Hui Peng, John Paul Bouffard, Roger Kurlan

Department of Neurology Faculty Papers

Idiopathic Parkinson's disease (iPD) research has historically prioritized basal ganglia dysfunction and neuronal Lewy body pathology, often overlooking cerebellar and non-neuronal cells contributions. This study investigates cerebellar neuropathology in iPD, specifically focusing on neuronal and non-neuronal cells of the dentate nucleus (DN) and its adjacent white matter (DN-WM). We systematically assessed autopsy-confirmed iPD brains vs. age-matched controls using immunohistochemistry and stereology-based morphometry methods. The study evaluated α-synuclein pathology, other common age-related co-occurring pathologies (β-amyloid, Tau, neuroinflammation), myelin integrity (Luxol-Fast-Blue), and neuronal volumetric changes in the DN of the cerebellum. In iPD brains, we identified intracytoplasmic α-synuclein inclusions within oligodendrocytes across …

Transcultural Headache Medicine: A Framework For Integrating Cultural Contexts Into Headache Science And Care - A Call To Action From The International Headache Society., Mario F. P. Peres, Giancarlo Lucchetti, Homero Vallada, Ivy L. Riso, Georgia K. Westenhofen, Marcelo Moraes Valença, Juliana Ramos De Andrade, K. C. Brennan, Morris Levin, Tsubasa Takizawa, Zhao Dong, Yonggang Wang, Wanakorn Rattanawong, Henry Riyanto Sofyan, Massimo Leone, Freda Dodd-Glover, Hsiangkuo Yuan, Abdulrazaq Albilali, Taoufik Alsaadi, Leonardo Caixeta, Anna P. Andreou, Peter J. Goadsby, Antoinette Maassenvandenbrink, Sait Ashina, Rami Burstein, Patricia Pozo-Rosich, Fayyaz Ahmed, Shuu-Jiun Wang

Department of Jefferson Headache Center Papers and Presentations

Headache disorders are among the most disabling neurological conditions, affecting over 1.5 billion people globally. Despite advances in pharmacological therapies, major inequities persist due to underdiagnosis, undertreatment and limited access to effective care, particularly in low- and middle-income countries. Social determinants of health, including cultural meanings, language and health beliefs, are increasingly recognized as key drivers of disparities in burden, diagnosis and treatment outcomes. Traditional medicine, used by more than 80% of the global population, remains first-line care in many regions and continues to influence therapeutic choices in high-income settings. Major systems such as Ayurveda, Traditional Chinese Medicine, Unani and …

Platelets Cause Microvascular Occlusion And Delayed Neurological Deficits After Subarachnoid Hemorrhage In Mice., Ari Dienel, Sung-Ha Hong, Kiara Torres, Kanako Matsumura, Jose Guzman, Peeyush Thankamani Pandit, Bibek Samal, Harveen Kaur, Samitha Nemirajaiah, Angelica Bernal, H Alex Choi, Louise D Mccullough, Spiros L Blackburn, Jaroslaw Aronowski, Devin W Mcbride

Faculty, Staff and Student Publications

After subarachnoid hemorrhage (SAH), some patients develop delayed neurological deficits (DND). Microthrombi are considered a contributing factor to DND, but clinical trials of antiplatelets had mixed results. Existing research suggests that platelets play a role in the etiology of DND, but no comprehensive study has tested causality between platelets and DND after SAH. Here we hypothesize that after SAH, platelet activation promotes microthrombi formation, occlusion of the brain microvasculature and contributes to DND, and that inhibiting platelet aggregation is a therapeutic strategy. Mice experiencing SAH were administered various interventions. The animals were subjected to stimulation of platelets, platelet depletion, or …

Phenome-Wide Analysis Of Copy Number Variants In 470,727 Uk Biobank Genomes, Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S Burren, Xiaoyin Li, Karyn Megy, Eleanor Wheeler, Qiang Wu, Santosh S Atanur, Marcin Karpinski, Douglas Loesch, Zammy Fairhurst-Hunter, Sri V V Deevi, Erin Oerton, Sean Wen, Xiao Jiang, Cecilia Salvoro, Jonathan Mitchell, Abhishek Nag, Ben Hollis, Amanda O'Neill, Jen Harrow, Stewart Macarthur, Sebastian Wasilewski, Sean O'Dell, Lifeng Tian, Katherine R Smith, Guillermo Del Angel, Margarete Fabre, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, Keren Carss

Duncan NRI Faculty and Staff Publications

Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association study (PheWAS) with 2,941 plasma protein abundance measurements, 13,336 binary clinical phenotypes and 1,911 quantitative traits. Proteomic analyses validated functional associations of CNVs with nearby genes (cis-protein quantitative trait loci; cis-pQTLs)—with deletions and duplications typically associated with reduced and increased protein levels, respectively—and uncovered previously unknown protein–protein interactions …