AAN 2025 Trainee Projects
Saturday, April 05
POSTER SESSION 1
11:45 am PDT
Topic: Postural Tachycardia Syndrome (POTS) Symptom Burden: Frequency, Severity, and Impact on Activities of Daily Living
Authors: Jonathan Trout, MD (presenter); Steven Vernino, MD, PhD, FAAN; Rachel R. Codden, MPH; Jenavieve Barson; Geoffrey Laforge, PhD; Alex Billings; Melissa M. Cortez, DO
Summary: This study found that individuals with POTS experience a high daily symptom burden, with lightheadedness and fatigue being the most common. Fatigue, weakness, and post-exertional symptom worsening had the greatest impact on daily functioning. Activities such as exercise, recreation, shopping, and stair climbing were most severely affected. These findings highlight the need for better tools to assess symptom burden and guide care in POTS.
Sunday, April 06
POSTER SESSION 3
11:45 am PDT
Topic: 84-Year-Old Male with Kelch-like Protein 11 (KLHL11) Antibody-Associated Rhombencephalitis and Merkel Cell Carcinoma
Authors: Priya Swaminathan, Medical student; Jasmine Pascoe, MD; Matthew L. Jacobson, MD; Kathryn C. Krulisky, MBBS; Brian L. Johnson, MD; Jonathan R. Galli, MD; Kyle Mahoney, MD; Yong Guo; Divyanshu Dubey, MD, FAAN; Paul D. Crane, MD
Summary: [This case presents an 84-year-old man with Merkel cell carcinoma who developed a rare brain inflammation (KLHL11 antibody-associated rhombencephalitis) after receiving immune checkpoint inhibitor therapy. Despite treatments, including steroids and plasma exchange, his symptoms partially improved, but he later died due to complications. This case suggests that KLHL11 antibody-related brain inflammation could be linked to Merkel cell carcinoma and immune therapy, though more research is needed.
Topic: Co-occurrence of Essential Tremor and Parkinson’s Disease in a Patient with Biallelic PRKN Mutations: A Case for Early Genetic Testing and Tailored Surgical Management
Author: Laura A. Pesantez Pacheco, MD*
Summary: A 44-year-old woman with progressive tremors and a family history of tremor was initially diagnosed with Essential Tremor (ET). Genetic testing later revealed biallelic PRKN mutations, linking her symptoms to Parkinson's disease (PD). This case emphasizes the value of genetic testing in ET for better treatment planning, suggesting early identification could lead to more effective treatments like deep brain stimulation (DBS).
*Note: University of Utah Neurology residents Conor Flavin, MD, and Abigail Bossart, MD, are presenting for Dr. Pesantez Pacheco.
Monday, April 06
POSTER SESSION 5
8:00 am PDT
Topic: Relapsing Myelopathy and Neuropathy in Adulthood: A Case of Biotinidase Deficiency
Authors: Drew Weber, MD (presenter); Kyle Mahoney, MD; Ashley Andrews, NP; Paul D. Crane, MD
Summary: Inborn errors of metabolism represent an important differential diagnosis to consider in cases of progressive neurological decline. Although biotinidase deficiency has been reported to cause both peripheral nerve injury and myelopathy, adult presentations are rare. We present a case of progressive peripheral nerve injury and cervical myelopathy due to untreated biotinidase deficiency.
POSTER SESSION 6
11:45 am PDT
Topic: A Significant Occurrence of Primary Neuropsychiatric Systemic Lupus Erythematosus: Clinical Features and Management
Authors: Drew Weber, MD (presenter); Jonathan R. Galli, MD; Muhammad Ahmed N. Chauhan, MD
Summary: Neuropsychiatric systemic lupus erythematosus (NPSLE) is a complication of SLE that affects the nervous system through inflammation or thrombosis (primary NPSLE) or due to immunosuppression or medication side effects (secondary NPSLE). Diagnostic findings include SLE diagnosis with symptoms including altered cognition, neuropsychiatric changes, or neuropathy, and supportive features such as a high SLE Disease Activity Index (SLEDAI) and presence of specific autoantibodies. Treatment involves immunosuppression with glucocorticoids, cyclophosphamide, or anti-B-cell therapy, with intravenous immunoglobulin or plasmapheresis in selected cases. This case highlights a noteworthy case of primary NPSLE's clinical features, management, and outcome.
Topic: The Impact and Utility of Genetic Panel Testing in Autoimmune Neurology Practice: A Single Center Experience
Authors: Sydney Lee, MD (presenter); Chloe Stein; Ka-Ho Wong; Tracy E. Schaffer, RN; Emily Spoth; Melissa A. Wright, MD; Tammy L. Smith, MD, PhD; Stacey Clardy, MD, PhD, FAAN
Summary: A study evaluated the impact of genetic testing in adult patients seen in an autoimmune neurology clinic. Of 994 patients, 179 had genetic panels ordered. Results showed that two-thirds of these patients had variants of uncertain significance (VUS), while one-third had positive results, including some with a gene related to immune system function (NOD2). The study highlights that while genetic testing can be useful, there are challenges in applying these results to patient care, and more research is needed to understand their impact on diagnosis and treatment.
S16 - Updates on Nerve and Muscle Disorders:
1:48 pm PDT
Topic: Motor Outcomes to Validate Evaluations in Facioscapulohumeral Muscular Dystrophy (MOVE FSHD): Interim Baseline Data and Potential Predictors for FSHD
Authors: Leah Miller, MD (presenter); Kelsey R. Barrell, MD
Summary: The MOVE FSHD study follows 450 people over two years to identify markers that predict FSHD progression. Early results show that movement tests and patient reports closely reflect disease severity, helping guide care and future clinical trials.
POSTER SESSION 7
5:00 pm PDT
Topic: The Urgent Need for Evidence Over Anecdote: Equipoise in the ExTINGUISH Clinical Trial in Anti-NMDAR Encephalitis
Authors: Yoji Hoshina, MD (presenter); Tammy L. Smith, MD, PhD; Ka-Ho Wong; Lisa K. Peterson, PhD; Anastasia Zekeridou, MD, PhD, FAAN; Albert Aboseif, DO; Christopher Coffey, PhD, FAAN; Melissa A. Wright, MD; Brenda L. Banwell, MD, FAAN; Annalisa Dialino-Felix; Susan K. Flavin; Lisa Dill; Hyun J. Cho, MD; Josep O. Dalmau, MD, PhD, FAAN; Maarten J. Titulaer, MD, PhD; Gregory S. Day, MD, MSc, FAAN; Stacey Clardy, MD, PhD, FAAN
Summary: A review of studies from January 2019 to April 2024 examined treatment strategies and outcomes for anti-NMDA receptor encephalitis (NMDARE). The use of first- and second-line immunotherapies increased, and more patients received initial treatment within 30 days. Despite these improvements, patient outcomes showed only slight improvements, with no significant change in mortality. The variation in outcomes across studies highlights the ongoing uncertainty in optimal treatment strategies. Future clinical trials, such as the ExTINGUISH Trial, are expected to provide clearer guidance.
Tuesday, April 08
POSTER SESSION 8
8:00 am PDT
Topic: Diagnostic Utility of Genetic Testing in Patients with Carotid Artery Dissection
Authors: Jordan Langford, MD; Jennifer J. Majersik, MD, FAAN; Karol Budohoski, MD, PhD; Aaron Shoskes, DO
Summary: A study at the University of Utah examined genetic testing in patients with carotid artery dissections (CaAD). Among 78 patients, only one had a potentially pathogenic variant, while 24% had variants of uncertain significance. These genetic findings were linked to higher rates of stroke and multiple dissections, but the clinical significance of the variants remains unclear.
Topic: Paradoxical Embolism Secondary to Asymptomatic Venous Thoracic Outlet Syndrome
Authors: Shumaila Anwer, MD; Alex O'Connor, MD; Philip Tatman, MD, PhD; Merry Joseph; Eric Christiansen, MD; Stephanie Lyden, MD; Vivek Reddy, MD; Veronica A. Moreno Gomez, MD
Summary: A 26-year-old male with a paradoxical embolic stroke was found to have a PFO and UEDVT due to venous thoracic outlet syndrome (vTOS). Despite no typical symptoms, imaging revealed the cause of the stroke. The patient was treated with PFO closure and anticoagulation. This case highlights the rare link between vTOS and paradoxical stroke.
POSTER SESSION 9
11:45 am PDT
Topic: Demographic and Clinical Characteristics of an MS and NMO Registry Cohort in Ghana
Authors: Fiifi Duodu, MD; Nana Boakye Agyeman Badu-Prempeh; Prince K. Pekyi-Boateng, MBBS; Ruth Agyekum; Albert K. Akpalu, MD; Deanna Saylor, MD, MHS
Summary: A study in Ghana reviewed 51 patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMO/NMOSD). MS patients, mostly female with an average age of 34, faced a 4.8-year diagnostic delay, with optic neuritis being the most common symptom. Only 35% received disease-modifying therapies, primarily ocrelizumab. NMO/NMOSD patients, with an average age of 31, had a 1.4-year delay in diagnosis and were mostly treated with steroids. The study highlights diagnostic delays and limited treatment access, urging earlier diagnosis and improved care availability.
Topic: Shooting in the Dark? A Single-Center Experience of Neural Autoantibody Panel Testing
Authors: Jasmine Pascoe, MD (presenter); Lisa K. Peterson, PhD; Ka-Ho Wong; Stacey Clardy, MD, PhD, FAAN; Tammy L. Smith, MD, PhD
Summary: This study found that over 85% of neural autoantibody panels for autoimmune neurologic conditions returned negative results. The positive rate was higher in serum than CSF. It suggests consulting with an autoimmune neurologist before ordering tests to improve efficiency.
POSTER SESSION 10
5:00 pm PDT
Topic: The Impact of Distance in Treating Glioblastoma: A Retrospective Single Center Study
Authors: Samantha Kropp, MD (presenter); Sam Tenhoeve; Joe S. Mendez, MD; Rachna Malani, MD; Yian A. Chen, PhD; Yuxin Zhao, MS
Summary: A study found that glioblastoma patients living farther from a Comprehensive Cancer Center had poorer survival and lower clinical trial enrollment rates. Patients 25-40 miles away had worse outcomes, emphasizing the need for better access to treatment and trials in rural areas.
Wednesday, April 09
POSTER SESSION 11
8:00 am PDT
Topic: Sex-based Differences in the Clinical Presentation and Outcomes of Posterior Reversible Encephalopathy Syndrome: A Nationwide Analysis
Authors: Prince K. Pekyi-Boateng, MBBS; Maya Gabel, MD; Conor T. Flavin, MD; Nana Boakye Agyeman Badu-Prempeh; Kamleshun Ramphul; Fiifi Duodu, MD; Clio A. Rubinos, MD; Jana Wold, MD
Summary: A study of 20,215 PRES patients found women were older, with different comorbidities. They had lower odds of kidney injury and hypertensive crises but higher odds of seizures compared to men. No significant differences were found in mortality or length of stay.
POSTER SESSION 12
11:45 am PDT
Topic: Designing and Implementing a Neurology Trainee Mentorship Curriculum
Authors: Brittany Russo, MD; Logan McPherson; Serena Wong, MD; Yarden Bornovski, MD; Ahya S. Ali, MD; Andrew Bauerschmidt, MD; Tracey A. Milligan, MD, FAAN; Sarah C. Parauda, MD
Summary: A new mentorship program for neurology trainees was implemented, involving pod-based groupings with attendings and trainees from different years. After one year, trainees reported increased satisfaction with mentors, more frequent meetings, and better peer mentorship opportunities. This curriculum could be a model for other residency programs.