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AAN 2023 Scientific Platform Sessions

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.