If you missed the annual AAN meeting this year, you can still catch up on the innovative presentations, panels, and courses our faculty and trainees were involved in.
Seminars
Saturday, April 22
Topic: Autonomic Neuropathies
Presenter: Guillaume Lamotte, MD
Summary: It is an educational plenary session on autonomic disorders. I will review the clinical evaluation of patients with suspected autonomic neuropathies, testing in autonomic neuropathies, and I will discuss cases to highlight selected autonomic neuropathies and their treatment.
Sunday, April 23
Topic: Cervical Radiculopathy
Presenter: Ligia V. Onofrei, MD
Summary: Participants should be able to recognize clinically important neck and upper limb pain and neurologic symptoms and signs indicating significant cervical spine disease and know when to order diagnostic tests and which tests to order for patients with cervical spinal cord and/or cervical spinal nerve impingement. Management of these patients will be discussed, non-operative treatment will be emphasized, and indications for surgery will be described.
Monday, April 24
Topic: Real-world Use of Current Headache Therapeutics
Presenter: Zubair Ahmed, MD
Summary: Participants should become familiar with recent consensus and guidelines on new treatments in headache medicine, be able to discuss and review real-world use of new treatment options in headache medicine as well as real-world evidence of new treatment options in headache medicine. Participants will also be able to report about ongoing research in the field of headache medicine.
Topic: When We Have to Think Outside the Box: Special Considerations in Post-anoxic SE and NORSE
Presenter: Carolina B. Maciel, MD, MSCR, FAAN
Summary: Participants will be able to describe which patients are at highest risk for nonconvulsive seizures and therefore warrant continuous EEG monitoring; manage equivocal EEG findings such as periodic discharges and the ictal-interictal continuum; rapidly diagnose and treat status epilepticus of all types; and better manage patients with postanoxic status epilepticus (including myoclonic SE) and NORSE.
Wednesday, April 26
Topic: Neurointensive Care: the Essentials
Presenter: Carolina B. Maciel, MD, MSCR, FAAN
Summary: Participants will learn about essential syndromes and disease states commonly encountered in neurocritical care and should be able to classify syndromes, recognize emergencies, apply treatment algorithms, and choose work-up. The course will use a combination of brief review on topics and case-based scenarios to allow attendees to organize scientific basis of various neurocritical disease processes and formulate management plans.
Topic: Adult Cases in Neurogenetics: Dilemmas and Therapeutic Options
Presenter: Jacinda B. Sampson, MD, PhD
Summary: Participants should be able to recognize and manage pediatric and adult neurogenetic diagnostic dilemmas, and become familiar with therapeutic implications and breakthroughs in the field.
Thursday, April 27
Topic: Updates in Prognostication and Management of Anoxic Brain Injury
Presenter: Jana Wold, MD
Summary: Participants should be able to employ methods to recognize patients at risk for delirium and enact treatments for in-hospital delirium; recognize the neurologic side effects of emerging cancer therapies and how to mitigate the risk of such side effects; and discuss updates to the prognostication of neurologic outcomes in cardiac arrest patients.
Academic Hubs
Sunday, April 23
Topic: Get Social on Social Media: #Networking 101 for Professional Development
Presenter: Stacey Clardy, MD, PhD, FAAN
Summary: "Get Social on Social Media: #Networking 101 for Professional Development" will be an interactive discussion for those looking to expand their online presence and network through social media platforms. We will discuss the basics of creating and maintaining a professional social media profile, as well as strategies for networking and building relationships through social media. We will also discuss how to use social media to promote a personal brand/identity, connect with academic/industry leaders, and find new opportunities for professional development. By the end of the discussion, participants will have a deeper understanding of the power of social media for professional development and how to effectively use it to advance their careers.
Monday, April 24
Topic: Fundamentals for Associate Professors Seeking Promotion
Presenter: Brian D. Berman, MD, MS, FAAN, Jennifer J. Majersik, MD, FAAN, Sarah Elizabeth Zauber, MD, FAAN
Summary: At the end of the session, learners will have a framework to begin preparing and eventually applying for promotion to Professor including: the importance of learning about local institution rules (written and hidden), how to build the all-important external reputation, how to identify appropriate letter writers, and how to frame a personal statement.
Topic: Associate Professor Networking Event
Presenter: Samantha K. Holden, MD, MS, FAAN, Brian D. Berman, MD, MS, FAAN, Babar Khokhar, MD, FAAN, Jennifer J. Majersik, MD, FAAN
Summary: Calling all Associate Professors! Enjoy a networking reception to meet new contacts and enjoy connecting with old friends. Learn what other Associate Professors are doing in 2023.
Tuesday, April 25
Topic: Strategic Planning for Neurology Departments: Engaging Leaders in Driving Their Future
Presenter: Vivek Reddy, MD
Summary: Academic neurology departments face incredible headwinds as the demand for neurology clinical care continues to increase exponentially in the setting of tighter pressures of financial support for education and research missions. Every day challenges of recruitment, patient needs, and provider burnout continue to take a toll on the health of departments, leading to high turnover and loss of engagement both at the leadership and individual faculty level. Engaging leadership on the vision of the department in an active strategic planning process can reset, rejuvenate, and maximize alignment across teams.
Topic: Bridging the Professional and Personal: Children, Caregiving, and Neurology
Presenter: Jana Wold, MD, Thabele M. Leslie-Mazwi, MD
Summary: To be a neurologist is to care deeply for patients, and to devote many waking hours to this great field of medicine. To be a neurologist is also to be a human being with loved ones and relationships that require cultivation and care. Sometimes these two aspects of our being can appear to be in conflict rather than communion. Join us as we discuss strategies for this tension between work and family, and the blending of the two.
Topic: Sabbaticals: A Time for Resetting and Reflection
Presenter: Kathleen B. Digre, MD, FAAN
Summary: This session will discuss the importance of sabbaticals to neurologists in academia and in practice. The ancients recognized the need for a sabbatical to provide intellectual renewal and reflection. We will discuss why do a sabbatical, what kinds of sabbaticals are out there, and how to pursue a sabbatical. At the end of the session, the attendee will understand the many purposes of a sabbatical—including conducting special research, writing a book, improving teaching skills, curriculum development, graduate work, and working in a different location. We will discuss suggestions for a successful sabbatical.
Wednesday, April 26
Topic: So Your Manuscript/Abstract Didn't Get Accepted…What Now?
Presenter: Adam De Havenon, MD
Summary: We typically put a lot of effort into our manuscripts and abstract submissions and when they get rejected, there can be feelings of anger, remorse, and even grief. But the quality of "grit," or call it perseverance, is essential to a career in academic medicine focused on the role of a clinician-scientist. Learning how to weather that storm and emerge stronger is critical, particularly as you graduate into the realm of submitting grant applications. In this session, we will discuss practical and, perhaps, unpractical ways to move past a rejection and onwards towards success. The path is not easy, but necessary and, ultimately, fruitful.
Topic: Division Chief Boot Camp
Presenter: Ihtsham Haq, MD, FAAN, Antonio M. P. Omuro, MD, FAAN, Jaya Raghav Trivedi, MD, FAAN, Jennifer J. Majersik, MD, FAAN
Summary: Division chiefs are a crucial element to advance the mission of neurology departments and influence their members' careers. Participants will learn about multiple topics of interest to current and aspiring division chiefs, including faculty hiring and development, financial structure of the department, advancing the academic mission, creating cohesion within the division, influencing culture, and strategy planning.
Thursday, April 27
Topic: I'm an Associate Professor: Now What and How Do I Balance It All?
Presenter: Jennifer J. Majersik, MD, FAAN, Amanda L. Jagolino-Cole, MD, FAAN
Summary: The mid-career, associate professor stage can be overwhelming with its many opportunities and requirements. This is an open discussion about how to be proactive in your career choices, including creating opportunities that fit with your career goals and the needs of your institution, without losing your mind.
Research Hubs
Monday, April 24
Topic: Hope Message
Presenter: Carolina B. Maciel, MD, MSCR, FAAN
Summary: Research innoculates us with hope. Hear from researchers about what fills their cup with hope and motivates them to continue neurologic research.
Tuesday, April 25
Topic: Coffee Connect: Underrepresented Researchers
Presenter: Carolina B. Maciel, MD, MSCR, FAAN, Marisela E. Dy-Hollins, MD, MSCR, Hugo Javier Aparicio, MD
Summary: Grab a cup of coffee and connect with underrepresented researchers about all things research.
Wednesday, April 26
Topic: Lessons Learned from Multi-Center Trial Submissions
Presenter: Stacey Clardy, MD, PhD, FAAN
Summary: Submitting a multi-center trial grant is not only time-consuming but also confusing as to the many steps and timelines. This dynamic talk will offer practical tips and solutions for trial submission, based on the presenter's personal experience developing the now NIH-funded EXTINGUISH trial.
HeadTalks Hubs
Wednesday, April 26
Topic: Forged in Adversity: Insights on Leadership
Presenter: Thabele M. Leslie-Mazwi, MD, David M. Greer, MD, FAAN, Cathy A. Sila, MD, FAAN, Lee H. Schwamm, MD, FAAN, Jennifer J. Majersik, MD, FAAN
Summary: Adversity is a very powerful teacher. Join us as we explore the forge of adversity and the lessons learned from leading under such conditions. Faculty will discuss four different phases in which adversity occurs: personal, departmental, institutional, and external to the institution. What worked, what did not, and why? Four influential leaders from the world of neurology will share their unique stories and the resulting insights in this interactive and highly informative format.
Scientific Platform Sessions
Sunday, April 23
Topic: Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics
Presenter: Michaela Walker, MPH, CCRP, John W. Day, MD, PhD, S.H. Subramony, MBBS, FAAN, Angela L. Genge, MD, Alrabi Tawil, MD, FAAN, Matthew P. Wicklund, MD, FAAN, Hanns Lochmuller, MD, FAAN, Jaya Raghav Trivedi, MD, FAAN, Perry Shieh, MD, PhD, FAAN, Bakri Elsheikh, MD, FAAN, Erin K. O'Ferrall, MD, William Martens, Jeffrey Statland, MD, Russell Butterfield, MD, PhD, BS, Leo Hong-Li Wang, MD, PhD, FAAN, Doris G. Leung, MD, Nicholas Elwood Johnson, MD, FAAN, Dennis W. Shaw, MD, Katy Eichinger, PT, PhD, DPT, NCS, Seth Friedman, Leann Lewis, Kiley Higgs, Peter Lawrence Jones, PhD
Summary: To date, most FSHD studies evaluating risk of functional outcomes or relationship between genetics and age at onset have been cross sectional - few evaluated longitudinal risk of functional motor outcomes, or risk factors for FSHD. A more comprehensive study tying motor functional performance, biomarkers, or changes in performance to life-modifying outcomes would be important not only for improving patient care, but to understand what kind of change would be meaningful for clinical trials. The MOVE FSHD study aims to determine the predictive value of clinical and motor assessments, patient-reported outcomes, imaging, and tissue biomarkers on disease progression in FSHD.
Topic: Discrepancies Between Neuroprognostication Assessments and End-of-Life Decision-Making in Post-Cardiac Arrest Patients
Presenter: Alexandra Rubenstein, David M. Greer, MD, FAAN, Gisele Sampaio Silva, Emily Jean Gilmore, MD, Carolina B. Maciel, MD, MSCR, FAAN, Rachel Beekman, MD, Rebecca Stafford, Alexander Scott
Summary: Withdrawal of life-sustaining therapy (WLST), often due to perceived poor neurologic prognosis (WLST-N), is the most common cause of death following cardiac arrest, regardless of arrest etiology. Current international guidelines for neuroprognostication after cardiac arrest promote a multi-modal approach, including pupillary and corneal reflexes, serum neuron-specific enolase (NSE), electroencephalography (EEG), somatosensory evoked potential (SSEP) and neuroimaging. We hypothesized that the rationale documented for WLST-N would not be supported by objective poor prognostic findings in a proportion of patients.
Topic: Genetically-Determined LDL Negatively Impacts Clinical Evolution of Ischemic Stroke Survivors
Presenter: Kane Wu, Kevin N. Sheth, MD, FAAN, Adam De Havenon, MD, Richa Sharma, MD, Guido Jose Falcone, MD, Victor Manuel Torres-Lopez, MA, Cyprien Rivier, MD, Daniela Brenda Renedo, MD, Carolyn Conlon, Other, Zachariah Demarais
Summary: Ischemic Stroke survivors are at high risk of stroke recurrence. Understanding the genetic risk factors for stroke recurrence will help guide future prevention strategies. We aim to study the contribution of genetically-determined lipid levels to the clinical trajectories of stroke survivors.
Monday, April 24
Topic: Cognitive Impairment is Associated with Longitudinal Disability in LGI-1-IgG Encephalitis
Presenter: Albert Aboseif, DO, Alexander D. Rae-Grant, MD, FAAN, Vineet Punia, MD, Justin Abbatemarco, MD, Amy Kunchok, MBBS, Brittany Lapin, Rachel Galioto, Moein Amin, MD, Yadi Li
Summary: A retrospective observational study of seropositive LGI-1-IgG AE patients was conducted between 2013-2022. Clinical predictors included demographics, clinical and paraclinical data, magnetic resonance imaging (MRI), and Montreal Cognitive Assessment (MoCA). Clinical outcomes included mRS and CASE scores. Logistic and linear regressions were used for modeling mRS and CASE, respectively. Baseline clinical characteristics were included as independent variables in the regression models.
Tuesday, April 25
Topic: Longitudinal Cognitive Screening Findings in Pediatric MS vs. Pediatric Controls and Adult MS in a Multi-center Cohort
Presenter: Kimberly O'Neill, MD, Lauren B. Krupp, MD, FAAN, Moses Rodriguez, MD, FAAN, John W. Rose, MD, FAAN, Mary R. Rensel, MD, FAAN, Bianca Weinstock-Guttman, MD, Tanuja Chitnis, MD, FAAN, Emmanuelle Waubant, MD, PhD, FAAN, Jayne Ness, MD, Timothy E. Lotze, MD, Leigh Elkins Charvet, PhD, Soe Soe Mar, MD, FAAN, Mark Gorman, MD, Gregory S. Aaen, MD, Teri Schreiner, MD, MPH, FAAN, Manu S. Goyal, MD, Leslie A. Benson, MD, Jan-Mendelt Tillema, MD, Nikita Shukla, MD, Michael Waltz, Aaron Wachtenheim Abrams, MD, Theron Charles Casper, PhD, Allan George, Yolanda Wheeler
Summary: This study showed relative stability in cognitive performance among pediatric and adult cases of RRMS and pediatric controls. It is reassuring that many with pediatric MS show preserved cognitive function relative to healthy peers early in their short-term disease course.
Wednesday, April 26
Topic: A Familial Analysis of Stiff-Person Spectrum Disorder utilizing the Utah Population Database
Presenter: Justin Abbatemarco, MD, John E. Greenlee, MD, FAAN, Stacey Clardy, MD, PhD, FAAN, Jonathan Ross Galli, MD, Ka-Ho Wong, Stefanie Jordan Rodenbeck, MD, Paul Daniel Crane, MD, Michael Joseph Madsen, Other, Alison Fraser, Other, Ankita Date, Jennifer West, Other, Zhe Yu
Results: We identified a total of 46 patients with a SPSD. The median age was 52 years old (SD 14 years), and 78% were female and 93% self-identified as White. A total of 22 (47%) had classical SPS, 16 (34%) had SPS with an overlapping with ataxia, epilepsy, or encephalitis. The majority (95%) had glutamic acid decarboxylase (GAD65) antibodies, 11 (24%) had α1-subunit of the glycine receptor (GlyR) antibodies (8 with concomitant GAD65 antibodies), and one patient tested negative for all antibodies. Twenty-eight patients had a comorbid autoimmune disorder with the most frequent being insulin-dependent diabetes (30%) and autoimmune thyroid disease (17%).
Conclusions: SPSD is a complex group of disorders predominantly defined by GAD65 and GlyR antibodies. The co-occurrence of autoimmune diseases and potential familial clustering suggests that genetic, inherited factors may play a role in SPSD.
Topic: The Synuclein-One Study: Skin Biopsy Detection of Phosphorylated alpha-synuclein for Diagnosis of the Synucleinopathies
Presenter: Christopher H. Gibbons, MD, FAAN, Roy L. Freeman, MD, Mark Gudesblatt, MD, Marie-Helene Saint-Hilaire, MD, FRCPC, FAAN, Charles H. Adler, MD, PhD, FAAN, Stuart H. Isaacson, MD, FAAN, Virgilio Gerald H. Evidente, MD, FAAN, Rajeev Kumar, MD, FRCPC, Todd D. Levine, MD, Alexandru C. Barboi, MD, Hemant Kumar Pandey, MD, Pravin Khemani, MD, FAAN, Nikolaus McFarland, MD, PhD, FAAN, Maria Alejandra Gonzalez Duarte, MD, Ningshan Wang, MD, PhD, Melita Talene Petrossian, MD, Mitchell G. Miglis, MD, FAAN, Andrew Liu, MD, Michael Soileau, MD, FAAN, Guillaume Lamotte, MD, Oleg Yerokhin Yerstein, MD, Bailey Bellaire
Results: Final un-blinded results will be presented at the AAN 2023 annual meeting with a focus on sensitivity, specificity, accuracy and precision. In addition, synucleinopathy subgroup analysis will be performed to define unique pathological characteristics of disease (PD, MSA, DLB or PAF).
Conclusions: The need for a validated, well-characterized, simple, reproducible marker of synuclein pathology has never been greater. The number of individuals with neurodegenerative diseases continues to grow and misdiagnosis within and among synuclein and non-synuclein pathologies continues to occur, resulting in incorrect medication choices, iatrogenic complications, poor prognostication and patient frustration. The Synuclein-One study is the largest investigation of cutaneous phosphorylated alpha-synuclein detection across all four synucleinopathies and will advance the field of neuro-diagnostic testing in neurodegenerative disease.
Topic: Identification of candidate Parkinson’s disease predisposition genes in high-risk pedigrees
Presenter: Paolo M. Moretti, MD, Stefan M. Pulst, MD, FAAN, Karla Patricia Figueroa, Lisa A. Cannon-Albright, Jeff Stevens, Alessandro Dotti, Kristina Allen-Brady, PhD
Summary: Previously sampled PD-affected relatives belonging to pedigrees exhibiting a statistically significant excess of PD were whole exome sequenced (WES) to identify rare, shared variants as candidate predisposition variants for PD. We identified pedigrees with high-risk of PD using the Utah Population Database (UPDB), a resource linking extensive genealogy information with medical record and other public health data sources. PD cases were identified by PD listed as a cause of death on death certificates. Sequencing results were compared to association results in the PD DNA Variant Browser.
Thursday, April 27
Topic: Presymptomatic Aquaporin-4 (AQP4) Autoantibody Seropositivity in NMOSD: Analysis of the Department of Defense Serum Repository (DoDSR)
Presenter: Tammy L. Smith, MD, PhD, John W. Rose, MD, FAAN, Sean J. Pittock, MD, Nathan Tagg, MD, Stacey Clardy, MD, PhD, FAAN, Noel Carlson, PhD, Ka-Ho Wong, Keith Groshans, MD, David Edward Horvat, MD, Lisa Kay Peterson, PhD, Sithembile Mabila, PhD
Results: 64 people who met inclusion criteria were identified and analyzed for autoantibodies to AQP4. Of 32 AQP4-positive patients analyzed for seropositivity in the sample prior to disease onset, 20 (62.5%) were positive for AQP4 (mean -940 days, SD -400.5); analysis of older serum samples will be presented at the conference.
Conclusions: Antibodies to AQP4 are present in a subset of patients with NMOSD years prior to diagnosis. Additional studies are needed to determine what factors predict onset of disease.
Topic: Genetic Analyses of Oral Health and Neuroimaging Markers of Brain Health in Persons without Stroke
Presenter: Cyprien Rivier, MD, Kevin N. Sheth, MD, FAAN, Adam De Havenon, MD, Guido Jose Falcone, MD, Sam Payabvash, Victor Manuel Torres-Lopez, MA, Thomas Gill, Daniela Brenda Renedo, MD
Summary: Oral health is a modifiable risk factor for stroke. However, the role of oral health on brain health among clinically asymptomatic persons remains understudied. We hypothesize that genetically-determined poor oral health leads to worse neuroimaging brain health profiles in persons without stroke.
Topic: Microburst Vagus Nerve Stimulation: Safety and Efficacy Outcomes
Presenter: Cornelia Drees, MD, William O. Tatum, IV, DO, FAAN, Selim R. Benbadis, MD, FAAN, Michael P. Macken, MD, MRCPI, Pegah Afra, MD, FAAN, Zeenat Jaisani, MD, Rebecca O'Dwyer, MD, Mesha Gay Brown, MD, Danielle S. McDermott, MD, Blake Newman, MD, Muhammad Shahzad Zafar, MBBS, Lesley Kaye, MD, Ryan Verner, Kristl Vonck, Jr., MD, PhD, Amy Keith, Other, Mei Jiang, PhD
Summary: Vagus nerve stimulation (VNS) therapy is an established treatment for drug-resistant epilepsy. New settings called “microburst stimulation” (µVNS) with high-frequency bursts are hypothesized to be more tolerable and efficacious than standard VNS (VNS) therapy. We assessed the clinical impact of Microburst-VNS in an early feasibility study.
Scientific Posters
Sunday, April 23
Topic: The Unmet Challenge of Diagnosing and Treating Photophobia in Children
Presenter: Sarah Shapiro, Kathleen B. Digre, MD, FAAN, Judith E.A. Warner, MD, Bradley J. Katz, MD, PhD, Meagan Dawn Seay, DO, Eric Caskey, MD, Jantz Jay Arbon, Other, Kenzie Isaacson Keeney
Summary: A large percentage of children with photophobia leave an eye doctor without a clear diagnosis for the etiology of their photophobia. This study aimed to evaluate children without a diagnosis for their photophobia. Many of these children turned out to have migraine. This poster also educates the public on an online curriculum to aid in the diagnosis of photophobia in children.
Topic: Telehealth Utilization in a Comprehensive Multiple Sclerosis Clinic During the COVID-19 Pandemic: Single Center Experience
Presenter: Trieste Francis, L. Dana DeWitt, MD, John W. Rose, MD, FAAN, Stacey Clardy, MD, PhD, FAAN, M. Mateo Paz Soldan, MD, PhD, Jonathan Ross Galli, MD, Melissa Ann Wright, MD, Robert Kadish, MD, Ka-Ho Wong, Sarah Germaine, DO, Julia Klein, NP, Tammy L. Smith, MD, PhD, Sarah Shapiro, Sama Noroozi Gilandehi, MD, Yiran Sun
Results: Total number of neurology visits did not significantly differ between the three study periods. Of the 100 MS patients included in the study: 73 were female, with mean age 53 (23-81) years with an average BMI of 29.5 Kg/m2. 65 patients performed walking tests unassisted, 26 with assistance (cane/walker), and 9 were wheelchair-bound. The average T25FW measured pre-pandemic was 7.1 s (n=94) and 7.2 s (n=80) measured during the stable pandemic period. 24 MS relapses in 19 patients treated with IV steroids were identified during the study. 43 instances of DMT change in 40 patients were recorded: 19 changes during the pre-pandemic period, 14 during the height of the pandemic period, and 10 during the stable pandemic period. 21 patients were not on DMT.
Conclusions: Telehealth can be an effective method to care for MS patients during a pandemic. In this cohort, objective measures did not differ amongst patients with implementation of telehealth.
Monday, April 24
Topic: Characterization of the Common Symptomology and Great Mimickers of Autoimmune Encephalitis
Presenter: Riya Amit Soneji, Stacey Clardy, MD, PhD, FAAN, Melissa Ann Wright, MD, Ka-Ho Wong, Tammy L. Smith, MD, PhD, Sarah Shapiro, Sama Noroozi Gilandehi, MD, Trieste Francis
Results: We describe the patient demographics of this cohort, as well as relevant clinical data including the predominant presenting symptom(s), cerebrospinal fluid characteristics, electroencephalography and neuroaxis imaging findings, suspected initial diagnosis, timing and duration of treatment interventions (including immunomodulatory therapy), final diagnosis, and outcomes.
Conclusions: The diagnosis of AE remains challenging, especially in patient presentations with a predominant psychiatric phenotype at onset, or in those with atypical features. Recognition of the most common pitfalls to diagnosis and disease mimics may improve timely and accurate recognition of causative etiologies and help to direct the most appropriate treatments and interventions.
Topic: Epidemiological and Demographic Characteristics Related to Social Determinants of Health in Patients with Anti-NMDAR Encephalitis
Presenter: Sarah Shapiro, Stacey Clardy, MD, PhD, FAAN, Melissa Ann Wright, MD, Ka-Ho Wong, Tammy L. Smith, MD, PhD, Sama Noroozi Gilandehi, MD, Trieste Francis
Results: We describe the epidemiological and socioeconomic characteristics of patients with anti-NMDAR encephalitis, including age of onset, presence of antecedent infections or triggers, race and ethnicity, sex, zip code, Gini index, Health Professional Shortage Area (HPSA) designations, duration from symptom onset to diagnosis, insurance type, primary language, and outcome by modified Rankin Score (mRS). We will conduct sensitive analysis on identifying any socioeconomic variables as covariance with the severity of anti-NMDAR encephalitis.
Conclusions: In this cohort, anti-NMDAR encephalitis outcomes were encouraging in the majority of patients. Recognition of specific epidemiologic and demographic related to social determinants of health variables placing anti-NMDAR encephalitis patients at risk for delays in diagnosis and/or underutilization of medical care will benefit this patient population.
Topic: Diagnostic Challenges in Pediatric Anti-NMDA Receptor Encephalitis
Presenter: Melissa Ann Wright, MD, Stacey Clardy, MD, PhD, FAAN, Ka-Ho Wong, Tammy L. Smith, MD, PhD, Suzanne Liu, MD, Lisa Kay Peterson, PhD, Sarah Shapiro, Sama Noroozi Gilandehi, MD
Summary: A retrospective chart review for patients within Primary Children’s Hospital (PCH) was conducted. ICD10 code G04.81 at PCH between January 2007 to September 2022 was queried to identify pediatric patients with “other encephalitis”. Of these 147 pediatric patients, 18 had confirmed anti-NMDAR encephalitis based on clinical features and positive NMDAR Ig antibody testing in the cerebrospinal fluid
Topic: Anti-Tr/DNER Paraneoplastic Cerebellar Degeneration with Marked Cerebellar and Psychological Symptoms Responsive to Plasma Exchange
Presenter: Paul Daniel Crane, MD, L. Dana DeWitt, MD, John E. Greenlee, MD, FAAN, DonRaphael Pratt Wynn, MD
Summary: We present a patient who developed cerebellar degeneration and severe psychological symptoms leading to the diagnosis of Hodgkin’s disease and detection of anti-Tr/DNER antibodies. The patient failed to respond methylprednisolone, intravenous immunoglobulin G, rituximab, and tumor treatment but had significant improvement with plasma exchange (PLEX).
Topic: Clinical and Imaging Features of Early Onset Alzheimer’s Disease with a SORL1 Nonsense Variant
Presenter: Conor T. Flavin, MD, Paolo M. Moretti, MD, Satoshi Minoshima, Jared Bartell, MD, Christine Cliatt Brown, MD, Emily Spoth, Other
Summary: This is a case report on a 56 year-old male with early-onset dementia and a SORL1 nonsense mutation. Imaging is atypical and includes subtle bilateral medial temporal and posterior cingulate hypometabolism on FDG-PET and subtle temporal atrophy on MRI. SORL1 gene mutations have been associated with an increased risk of AD with earlier age of onset.
Topic: A Novel Presenilin-1 Mutation Associated with Dementia and Spastic Paraplegia
Presenter: Bridget Ollesch, MD, Nicholas A. Frost, MD, PhD, Jumana Tariq A Alshaikh, MD
Summary: Mutations in PSEN1 are the most common cause of familial Alzheimer’s Disease (AD). Mutations in PSEN1 are highly penetrant with autosomal dominant inheritance, presenting at a young age and often with unusual features including spastic paraplegia (SP). We report a novel mutation found in our patient that is suspected to be the cause of his AD with associated SP. This case presents a patient with cognitive decline and spasticity associated with a previously unidentified pathogenic variant of presinilin1 (PSEN1).
Topic: Utilization of intraoperative Subthalamic Nucleus local field potential recordings to guide postoperative Deep Brain Stimulation programming in Parkinson’s disease
Presenter: Shumaila Anwer, MD, John D. Steffens, MD, Panagiotis Kassavetis, MD, Jumana Tariq A Alshaikh, MD, D. James Ballard, Meghan Zorn, PA, Thomas James Paxton, II, Shervin Rahimpour, MD
Summary: A retrospective study of intraoperative Local Field Potential (LFP) recordings from subthalamic nucleus (STN) in patients who underwent STN Deep Brain Stimulation (DBS). Intraoperative STN LFPs did not predict exactly the electrode contacts that were activated postoperatively based on clinical response. However, the majority of activated contacts were adjacent to the contacts with the highest intraoperative beta band power peaks. In conclusion, intraoperative STN LFPs can be useful in postoperative DBS programming.
[Alt Summary: The intraoperative LFP recordings can potentially provide valuable information for programming guidance postoperatively.]
Topic: Feasibility of at-home motor assessments using wireless technology in patients with myelopathy: year 1 follow up of CYGNET, an observational study of patients with adrenomyeloneuropathy
Presenter: Christopher D. Stephen, MB, ChB, MRCP, Florian Eichler, MD, Joshua Bonkowsky, MD, PhD, Asif M. Paker, MD, MPH, Wolfgang Koehler, Marc Engelen, MD, PhD, Steven Zelenkofske, MD, DO, Lauren Glenn, Caroline Bergner, MD
Summary: In this study we demonstrate that remote monitoring of disability for motor assessments for a clinical trial (CYGNET) can be conducted using remote technologies. Although precipitated by the Covid pandemic, our work shows that this is feasible and provides reliable data, which will expand access for clinical trials for patients.
Tuesday, April 25
Topic: A Case of Autonomic Failure in Superficial Siderosis
Presenter: Bridget Ollesch, MD, Mark B. Bromberg, MD, PhD, FAAN, Kathleen B. Digre, MD, FAAN, Perla C. Thulin, MD, Melissa M. Cortez, DO, Lubdha Shah
Summary: Case of a patient with superficial siderosis of the brain and spinal cord who developed autonomic failure manifested as orthostatic hypotension. The hypothesis is that the peripheral autonomic fibers may be affected by the same unknown mechanism, and that there may be a central component of autonomic failure since his superficial siderosis involved his brainstem. This supports that superficial siderosis may cause autonomic dysfunction with both peripheral and central manifestations.
[Alt Summary: Superficial Siderosis is a disorder in which hemosiderin deposits on the pial surface of the brain and/or spinal cord and is generally associated with the clinical triad of hearing loss, ataxia, and myelopathy. Autonomic impairment has not been widely reported. We report a case of a patient with severe superficial siderosis of his brain and spinal cord who developed autonomic failure. His autonomic testing revealed distal predominant postganglionic sympathetic sudomotor dysfunction along with cardiovascular adrenergic failure accompanying his orthostatic hypotension. We hypothesize that superficial siderosis may cause autonomic dysfunction with both peripheral and central manifestations.]
Topic: Epilepsia Partialis Continua Presenting as Hypoxemic Respiratory Failure
Presenter: Patrick O'Connor, MD, Angela Yvonne Peters, MD, Brian Leif Johnson, MD, Eric Stulberg, MD
Summary: We wanted to share an interesting case of a young patient with epilepsia partialis continua (EPC). This is fairly common diagnosis, but it usually involves contractions muscles of the face or limbs. In this patient, it manifested primarily in the abdominal musculature and diaphragm, ultimately resulting in respiratory failure. It was quite refractory to treatment, ultimately requiring intubation and tracheostomy. Initially, only EMG artifact from myoclonus was seen on the EEG. However, once she was intubated and paralyzed, we did see some subtle bilateral L>R parasaggital ictal EEG changes. She underwent multiple rounds of burst suppression, aggressive anti-seizure medication escalation, empiric immunotherapy and even centromedian thalamic responsive neurostimulation. Despite all of this, her seizures remained refractory. This is an important case that illustrates a rare presentation of a common epilepsy syndrome that is difficult to treat.
[Alt Summary: We present a case of a patient with epilepsia partialis continua (EPC) who presented with abdominal spasm and hypoxemic respiratory failure necessitating intubation. She was found to have focal electrographic seizures causing diaphragmatic spasms evident on EEG only after administration of paralytics. Epilepsia partialis continua is frequently silent on EEG. This patient had a very rare form of diaphragmatic epilepsy with preserved awareness that progressed to respiratory failure. The ictal nature of her symptoms only became apparent on EEG after administration of paralytics. In patients with abdominal spasm, it is important to consider ictal causes that may not be electrographically evident.]
Topic: A Familial Analysis of Neurosarcoidosis Utilizing the Utah Population Database
Presenter: Paul Daniel Crane, MD, Stacey Clardy, MD, PhD, FAAN, Jennifer Lord, MD, Justin Abbatemarco, MD, Ka-Ho Wong, Tammy L. Smith, MD, PhD, Michael Joseph Madsen, Other, Alison Fraser, Other, Ankita Date, Zhe Yu
Summary: Sarcoidosis is a multisystemic inflammatory disease that can affect the cardiac, integumentary, hepatic, renal, ocular, and neurologic systems. Neurologic manifestations include cranial neuropathies, meningitis, peripheral neuropathy, myelopathy, intraparenchymal mass lesions. Current evidence suggests familial clustering of sarcoidosis in Sweden as well as within the US Black population. Genes of interest include HLA-DP subregions, Annexin A11, Butyrophilinlike 2 gene, and Toll-like receptors. We investigated for evidence of shared genetics among our Intermountain West cohort of neurosarcoidosis patients.
Topic: Vasculitis in the Central Nervous System: Treatment and Outcomes in a Large Single-Center Cohort
Presenter: Yoji Hoshina, MD, Stacey Clardy, MD, PhD, FAAN, Robert Kadish, MD, Ka-Ho Wong, Stephanie Lyden, MD, Alen Delic
Results: We described the demographic characteristics of vasculitis patients with CNS involvement seen at the University of Utah, as well as presenting symptoms, relevant comorbidities, distinct imaging findings (including a focus on imaging modality), CSF abnormalities, treatments, and outcomes.
Conclusions: This is a comprehensive characterization of patients with vasculitis involving the CNS in a large area of the Intermountain West. Understanding the differences in these patient characteristics, symptoms, and variability in diagnostic and treatment plans will inform better, more efficient approaches.
Topic: Cardiac Involvement In Neurosarcoidosis: A Single Center Investigation
Presenter: Sama Noroozi Gilandehi, MD, Stacey Clardy, MD, PhD, FAAN, Melissa Ann Wright, MD, Jennifer Lord, MD, Ka-Ho Wong, Josef Stehlik, MD, Line Kemeyou, MD, Other
Summary: Sarcoidosis is a multisystem granulomatous inflammatory disease. We report the incidence of cardiac sarcoidosis in our NS cohort and examined the frequency of other cardiac diseases in the cohort.
Topic: A Case of Hydroxychloroquine-Induced Neuromyopathy Causing Severe Ventilatory Failure
Presenter: Kelsey Rachel Barrell, MD, Kyle Mahoney, MD, Joshua M. Klonoski, Paul Daniel Crane, MD
Summary: Hydroxychloroquine (HCQ) induced neuromyopathy is a well-documented but rare side effect of HCQ. Here, we discuss a case of HCQ-induced neuromyopathy culminating in respiratory failure. There are few documented cases of fulminant respiratory failure requiring mechanical ventilation due to this severe neuromuscular complication of HCQ. We present a case of HCQ-induced neuromyopathy culminating in reversible respiratory failure.
Wednesday, April 26
Topic: Diagnosed in the Autoimmune Neurology Clinic: Two patients with different phenotypes of spinocerebellar ataxia type 27
Presenter: Yoji Hoshina, MD, Stefan M. Pulst, MD, FAAN, Judith E.A. Warner, MD, Stacey Clardy, MD, PhD, FAAN, Melissa Ann Wright, MD, Karen Salzman, Emily Spoth, Other, Tyler J. Richards, MD
Summary: SCA27 is an autosomal dominant condition caused by a pathogenic mutation in the fibroblast growth factor 14 (FGF14) gene located on chromosome 13. Phenotypic expression can vary in patients with the same genetic abnormality, often delaying diagnosis, especially in probands without affected relatives and/or with unremarkable or unavailable family history at the time of presentation. We describe two patients referred to the Autoimmune Neurology clinic at the University of Utah for suspicion of an autoimmune/autoinflammatory disease, ultimately diagnosed with SCA27 as part of an expanded clinical evaluation.
Topic: Novel BIPOC+ Next-Generation Summer Neuroscience Research Internship Initiative
Presenter: Ka-Ho Wong, Kathleen B. Digre, MD, FAAN, Stefan M. Pulst, MD, FAAN, John W. Rose, MD, FAAN, Amir Manzoor Arain, MD, FAAN, Karla Patricia Figueroa, Stacey Clardy, MD, PhD, FAAN, Angela Yvonne Peters, MD, Nicholas A. Frost, MD, PhD, Elisabeth Wilde, Adam De Havenon, MD, Lilly Fagatele, Stephanie Lyden, MD, Emily Dennis, Marissa Marie Castillo, Sarah Shapiro, Michelle Miranda, PhD, Abby Forrest, Sama Noroozi Gilandehi, MD, Crystal Neate, Other, Trieste Francis, Laura Beeler, Other, Gloria Slattum, PhD, Annie Fukushima, Elise Longnecker, Kacey Madsen, Megan McKay
Summary: The objective of this ongoing project was to describe a novel Black, Indigenous, and People of Color+ (BIPOC+) next-generation neuroscience research internship (BNRI) initiative at the University of Utah. It aims to provide a foundational experience for BIPOC+ students in the field of neurology.
Topic: Multiple Sclerosis Related Trigeminal Neuralgia – Clinical Characteristics, MRI Correlates and Treatment Outcomes
Presenter: Sarah Germaine, DO, John W. Rose, MD, FAAN, Sheila Steiner
Summary: MS related TN is known to be a challenge to effectively treat and is a major cause of debility for these patients. Despite its impact on quality of life, clinical features and management strategies specific to TN secondary to MS are limited. The objective of this project was to describe the clinical characteristics, MRI correlates, and treatment outcomes of the University of Utah Multiple Sclerosis (MS) patient population with Trigeminal Neuralgia (TN).
Topic: Substantial Burden of Illness and Mortality in Adult Men with Adrenomyeloneuropathy: A Retrospective Study of Real World Data
Presenter: Joshua Bonkowsky, MD, PhD, Florian Eichler, MD, Christopher D. Stephen, MB, ChB, MRCP, Naomi Sacks, Eileen Sawyer, PhD, Philip Cyr, Bridget Healey, Ronae McLin
Summary: Leukodystrophies are commonly thought of childhood diseases. However, many leukodystrophies including ALD/AMN may have their first presentation in adulthood. We report on the first comprehensive evaluation of disease burden in adult men with AMN. Strikingly, mortality rates are almost 5-times higher than the general population. In addition, we identified several previously unknown disease morbitidies of AMN, including peripheral vascular disease, chronic pulmonary disease, and liver disease.
Thursday, April 27
Topic: Microscopic Polyangiitis Mimicking Chronic Inflammatory Demyelinating Polyneuropathy
Presenter: Eric Stulberg, MD, Kyle Mahoney, MD, Piotr Tekiela, MD, Michael Stagg Chamberlain, Yoji Hoshina, MD
Summary: This is a case report regarding a diagnosis of MPA we made with one of our residents, Eric Stulberg, while on inpatient service.
Topic: Misdiagnosis of Multiple Sclerosis in Neuromyelitis Optica: Results from multi-institutional database analysis from the United States
Presenter: Ka-Ho Wong, John E. Greenlee, MD, FAAN, John W. Rose, MD, FAAN, Stacey Clardy, MD, PhD, FAAN, M. Mateo Paz Soldan, MD, PhD, Jonathan Ross Galli, MD, Melissa Ann Wright, MD, Robert Kadish, MD, Sarah Germaine, DO, Julia Klein, NP, Tammy L. Smith, MD, PhD, Alen Delic, Sama Noroozi Gilandehi, MD, Trieste Francis
Results: Of the 7768 NMO patients were identified from the TriNETX database, 75.0% were female (n=5826), the mean age (SD) was 49.1 (18.1) years, 53.0% were white (n=4,117), 27.0% (n=2097) were black, 3.0% were Asian (n=223), and the remain are unknown 17.0% (n= 1331). In the four Census Regions, we included 1750 patients from the Northeast, 1012 patients from the Midwest, 4048 from the South, and 872 from the West. Of all NMO patients, 44% (n=3,421) were diagnosed with MS at some point during their course, and 853 NMOSD patients received at least one FDA-approved MS therapy. Sensitive analysis will be completed on geographic variance based on the four censuses of misdiagnosis and prescribed FDA-approved MS DMTs.
Conclusions: Many NMOSD patients were misdiagnosed with MS in this national population, and almost one-quarter of misdiagnosed patients were prescribed an FDA-approved MS DMT. An understanding of the specific characteristics of misdiagnosed NMOSD patients is warranted to better understand the factors increasing the risk of misdiagnosis.
Topic: Race and Social Determinants of Health in Performance Outcomes among Relapsing Remitting Multiple Sclerosis Patients
Presenter: Justin Abbatemarco, MD, Mary R. Rensel, MD, FAAN, Deborah M. Miller, PhD, Robert A. Bermel, MD, Daniel Ontaneda, MD, PhD, FAAN, Devon Conway, MD, Marisa P. McGinley, DO, Deja Rose, MD, David Bruckman, Scott Husak, Jesse Schold, PhD
Summary: This retrospective study was conducted at Cleveland Clinic. Utilizing census tract data, we analyzed the relationship of SDoH with MS Performance Test (MSPT) measures. SDoH included the following: Area Deprivation Index-3 (ADI) consisting of neighborhood financial strength, economic hardship, and educational attainment, along with public transportation access, housing stock built before 1979, and urban-rural living status. We then assessed differences in MSPT measures across racial groups while adjusting for SDoH, disease severity, living status and comorbidities.
Topic: Real-world effectiveness of switching treatment after initial platform injectable disease-modifying therapies in pediatric multiple sclerosis in the US
Presenter: Aaron Wachtenheim Abrams, MD, Lauren B. Krupp, MD, FAAN, Moses Rodriguez, MD, FAAN, John W. Rose, MD, FAAN, Mary R. Rensel, MD, FAAN, Bianca Weinstock-Guttman, MD, Tanuja Chitnis, MD, FAAN, Emmanuelle Waubant, MD, PhD, FAAN, Timothy E. Lotze, MD, Leigh Elkins Charvet, PhD, Soe Soe Mar, MD, FAAN, Mark Gorman, MD, Gregory S. Aaen, MD, Teri Schreiner, MD, MPH, FAAN, Manu S. Goyal, MD, Jennifer Graves, MD, PhD, Leslie A. Benson, MD, Jan-Mendelt Tillema, MD, Kristen M. Krysko, MD, Carla Marina Francisco, MD, Nikita Shukla, MD, Alice Rutatangwa, DO, Michael Waltz, Theron Charles Casper, PhD, Yolanda Wheeler
Summary: Fremanezumab, a humanized monoclonal antibody, selectively targets CGRP, and is authorised for preventive treatment of episodic and chronic migraine (EM, CM) in adults with ≥4 migraine days/month. Here we present interim, subgroup analysis, data from FINESSE.
Skills Workshop
Monday, April 24
Topic: Fundus and Optic Disc Exam
Presenter: Heather Moss, MD, PhD, FAAN, Kathleen B. Digre, MD, FAAN
Summary: This is a hands-on mini-lab to convey neuro-ophthalmology and neuro-otology examination skills. The lab consists of stations to address individual components of the exam, including visual acuity (near and Snellen acuity), color vision, fields (confrontation and Amsler grid), pupils (RAPD and anisocoria), ocular alignment (prism cover, general prism use, red Maddox rod), assessment of pursuits and saccades, nystagmus examination (Frenzel lens), ophthalmoscopy (direct and panoptic ophthalmoscopes), assessment of the vestibular ocular reflex (head thrust and ophthalmoscopy), Hallpike testing, and repositioning treatments. Participants will spend time at each station for individualized instruction and troubleshooting with an expert on these essential examination skills. Participants will understand the techniques used in performing the neuro-ophthalmic and neuro-vestibular exams, including afferent, pupil, efferent, and vestibular components.
Other
Sunday, April 23
Topic: Editors’ Highlights of the Neurology Minute and Neurology® Podcast
Presenter: Stacey Clardy, MD, PhD, FAAN, Jeffrey B. Ratliff, MD, FAAN, Jason L. Crowell, MD
Summary: Informal Meet & Greet and Discussion with some of the Neurology Podcast and Neurology Minute Daily Briefing clinician leadership team - we're looking forward to connecting with you in person and hearing your ideas and suggestions (But watch out, you may be recruited!). We'll also share updates on the scope and reach of both the Podcast and the Minute. We'll have some branded sticker swag just for fun, too!