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: Peripheral sudomotor abnormalities in postural tachycardia syndrome (POTS)
Presenter: Anna Newman, Guillaume Lamotte, Jordan Langford, Luke Heyliger, Melissa M. Cortez
Summary: The objective of the current study was to evaluate the frequency and distribution of sudomotor abnormalities in all the individuals who presented to the autonomic laboratory at the University of Utah and received a diagnosis of POTS. Of the 347 POTS patients reviewed, the majority had distal-predominant sweat function loss (13%) with ≤2 abnormal QSART sites (90%); widespread sudomotor impairment is rare in POTS. Patchy and/or proximal sudomotor deficits were also noted. Multimodal and/or direct assessment may be more sensitive to identify neuropathic POTS (e.g., skin biopsy, NE spillover in leg veins).
Topic: Effect of headache on quantitative symptom scores in children and young adults with postural orthostatic tachycardia syndrome (POTS)
Presenter: Luke Heyliger, Christopher Taylor, Melissa M. Cortez
Summary: The objective of this study was to evaluate whether POTS patients with a history of recurrent headaches have a greater disease burden than those without headaches. The presence of headache was associated with significantly higher scores on GAD-7 assessment in patients with POTS. Patients with headache also demonstrated tended to have higher average scores of fatigue, depression and autonomic symptom (COMPASS-31) assessments. This finding highlights the relationship between recurrent headache and increased mood symptoms - a known comorbidity of chronic headache - and suggests a negative impact of headache on symptom severity across multiple domains in patients with POTS.
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.