Abstract Details

Title GAD65 and Glycine Receptor-Associated Neurologic Autoimmunity and Stiff-Person Syndrome within the University of Utah Health Care System

Topic Autoimmune Neurology

Presentation(s) P2 - Poster Session 2 (5:30 PM-6:30 PM)

Poster/Presentation
Number 15-036

Objective Describe the demographics and clinical characteristics of patients within the University of Utah Healthcare system with stiff person syndrome (SPS), stiff limb syndrome, and progressive encephalomyelitis with rigidity and myoclonus (PERM).

Background The clinical phenotypes associated with glutamic acid decarboxylase (GAD65), amphiphysin, and glycine receptor (GlyR)-associated neurologic autoimmunity have expanded from the original descriptions of SPS as an autoimmune disease that typically presents with symptoms of proximal limb and axial rigidity and spasms. Treatment with benzodiazepines is first-line, with immunotherapy also playing an important role.

Design/Methods

We performed a retrospective review of patients within the University of Utah Healthcare system meeting criteria 1 and 2 or 2 and 3, with lists cross referenced against one another:

1. Positive GAD65 (>100 IU/mL) or amphiphysin serum or cerebrospinal fluid testing at Associated Regional and University Pathologists, Inc. (ARUP Laboratories), or positive GlyR testing (performed on a research-basis) at Mayo Medical Laboratories.

2. At least one visit with a University of Utah clinician in the Department of Neurology.

3. At least one ICD-9-CM or ICD-10-CM code for stiff person syndrome (333.91 or G25.82, respectively), encephalomyelitis (323.9 or G04.90, respectively); or ICD-10-CM code for GAD65 seropositivity (R76.0).

Results We identified patients meeting the above criteria and characterized them as either classic SPS, stiff limb variant, or PERM variant, or if they had another recognized phenotype other than SPS spectrum, we described the associated phenotype. Each case was classified by relevant demographics and clinical data including age at symptom onset, age at diagnosis, spasm location, associated neurological symptoms, associated autoimmunity and malignancy, and response to symptomatic therapy and immunotherapy.

Conclusions This is a comprehensive characterization of GAD65, GlyR, and amphiphysin-associated neurologic autoimmunity within a single regional academic medical center. These conditions may not be as rare as previously reported, and outcomes are variable, with a tendency toward progressive disability.

Authors/Disclosures
Jonathan R. Galli, MD (University of Utah) PRESENTER	Dr. Galli has nothing to disclose.
Amanda L. Piquet, MD, FAAN (University of Colorado)	The institution of Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech/Roche. The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion. The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Kyverna . The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech/Roche. The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. The institution of Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Sands Anderson PC. Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Joe Jones Law Firm. Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Cortez & Associates. Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Falk Waas. The institution of Dr. Piquet has received research support from Rocky Mountain MS Center. The institution of Dr. Piquet has received research support from Roche/Genentech. The institution of Dr. Piquet has received research support from NYU. The institution of Dr. Piquet has received research support from Anokion. The institution of Dr. Piquet has received research support from UCB . The institution of Dr. Piquet has received research support from Foundation for Sarcoidosis. The institution of Dr. Piquet has received research support from Kyverna . Dr. Piquet has received publishing royalties from a publication relating to health care. Dr. Piquet has received publishing royalties from a publication relating to health care. Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving as a Litigative Consultant with US-Dept HHS/DICP. Dr. Piquet has a non-compensated relationship as a Medical Advisory Board Member with Autoimmune Encephalitis Alliance (AEA) that is relevant to AAN interests or activities. Dr. Piquet has a non-compensated relationship as a Medical Advisory Board Member with Stiff Person Syndrome Research Foundation (SPSRF) that is relevant to AAN interests or activities.
	No disclosure on file
Julia Klein, NP (University of Utah School of Medicine)	An immediate family member of Ms. Klein has received personal compensation for serving as an employee of Amgen. An immediate family member of Ms. Klein has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Amgen.
Judith E. Warner, MD (Moran Eye Center)	Dr. Warner has received intellectual property interests from a discovery or technology relating to health care.
Kathleen B. Digre, MD, FAAN (University of Utah)	Dr. Digre has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for American Headache Society. The institution of Dr. Digre has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Journal of Neuro-ophthalmology. The institution of Dr. Digre has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Utah Womens Health Review. Dr. Digre has received intellectual property interests from a discovery or technology relating to health care. Dr. Digre has received intellectual property interests from a discovery or technology relating to health care. Dr. Digre has received intellectual property interests from a discovery or technology relating to health care. Dr. Digre has received publishing royalties from a publication relating to health care. Dr. Digre has received publishing royalties from a publication relating to health care.
Lisa K. Peterson, PhD (ARUP Laboratories)	Dr. Peterson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Werfen. Dr. Peterson has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Werfen. Dr. Peterson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AliveDx. Dr. Peterson has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Clinical Biochemistry. Dr. Peterson has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Lab Q for ASCP. Dr. Peterson has a non-compensated relationship as a President with Association of Medical Laboratory Immunologists that is relevant to AAN interests or activities.
	No disclosure on file
Thomas R. Haven, PhD (ARUP Laboratories)	Dr. Haven has nothing to disclose.
M. M. Paz Soldan, MD, PhD (Mayo Clinic)	Dr. Paz Soldan has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG Therapeutics. The institution of Dr. Paz Soldan has received research support from National Institutes of Health. The institution of Dr. Paz Soldan has received research support from National Multiple Sclerosis Society. The institution of Dr. Paz Soldan has received research support from Western Institute for Biomedical Research. The institution of Dr. Paz Soldan has received research support from Biogen. The institution of Dr. Paz Soldan has received research support from Novartis. The institution of Dr. Paz Soldan has received research support from Clene Nanomedicine.
John W. Rose, MD, FAAN (Imaging and Neurosciences Center)	The institution of Dr. Rose has received research support from National Multiple Sclerosis Society. The institution of Dr. Rose has received research support from Guthy Jackson Charitable Foundation. The institution of Dr. Rose has received research support from NIH . The institution of Dr. Rose has received research support from VA. The institution of Dr. Rose has received research support from Biogen. The institution of Dr. Rose has received research support from Friends of MS. Dr. Rose has received intellectual property interests from a discovery or technology relating to health care.
John E. Greenlee, MD, FAAN (University of Utah)	Dr. Greenlee has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Medlink. Dr. Greenlee has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Zeigler Cohen Roche. Dr. Greenlee has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Sommers Schwartz PC. Dr. Greenlee has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for St Francis Hospital. Dr. Greenlee has received publishing royalties from a publication relating to health care. Dr. Greenlee has received publishing royalties from a publication relating to health care.
Stacey Clardy, MD, PhD, FAAN (University of Utah)	Dr. Clardy has received personal compensation for serving as an employee of Veterans Health Administration (VHA). Dr. Clardy has received personal compensation for serving as an employee of University of Utah Health. Dr. Clardy has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AstraZeneca/Alexion. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen/Horizon. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Arialys. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. Dr. Clardy has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology/AAN Publications. The institution of Dr. Clardy has received research support from NIH/NINDS. The institution of Dr. Clardy has received research support from SRNA. The institution of Dr. Clardy has received research support from Alexion/AstraZeneca. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a AAN Summer Meeting CoDirector Travel and Lodging with AAN. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a Grand Rounds Travel/Lodging/Honoraria with U of Iowa, Miami, Stanford, Barrow, Beaumont Health, CCF, Emory, Penn State, Mayo Clinic, Walter Reed.

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