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Abstract Details

Diagnosed in the Autoimmune Neurology Clinic: Two patients with different phenotypes of spinocerebellar ataxia type 27
Autoimmune Neurology
P10 - Poster Session 10 (8:00 AM-9:00 AM)
6-014

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.

To describe two cases of spinocerebellar ataxia type 27 (SCA27), with a focus on the importance of differentiating episodic manifestations of neurogenetic conditions from inflammatory/autoimmune neurologic conditions.  We emphasize the importance of obtaining an objective evaluation of the response to immunomodulatory treatment trials, and the significance of attaining a comprehensive family history. 

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. 

A 68-year-old male patient (Case 1) presented with episodic dysarthria, dizziness, imbalance, and encephalopathy, with suspicion of a possible autoimmune etiology at the time of referral. At his first presentation, the patient reported no significant family history. Four years later, on revisiting the family history, he noted that his 49-year-old niece (Case 2) had also developed neurologic symptoms of unclear etiology. On evaluation, his niece was noted to have a tremor and ataxia. Both patients had evidence of systemic autoimmunity that likely contributed to suspicion of neurologic autoimmunity, and neither had age-advanced cerebellar or brainstem volume loss on imaging. Ultimately, genetic testing of both patients revealed a pathogenic mutation in the FGF14 gene consistent with SCA27.

These two cases highlight the importance of a detailed interval family history at each visit, especially in undiagnosed adult patients. The presumptive autoinflammatory diagnosis in both patients reinforces the importance of comprehensive follow-up, including an objective analysis of response to any immunomodulatory diagnostic treatment trials.

Authors/Disclosures
Yoji Hoshina, MD (University of Utah Health)
PRESENTER
Dr. Hoshina has nothing to disclose.
Melissa Ann Wright, MD (University of Utah) Dr. Wright has nothing to disclose.
Judith E A Warner, MD (Moran Eye Center) Dr. Warner has received intellectual property interests from a discovery or technology relating to health care.
Tyler J. Richards, MD (University of Utah School of Medicine) Dr. Richards has nothing to disclose.
Karen Salzman Karen Salzman has received publishing royalties from a publication relating to health care.
Stefan M. Pulst, MD, FAAN (University of Utah) Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for venrock. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arrowhead. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Leverna. Dr. Pulst 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 AAN. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Leninthal LLC. The institution of Dr. Pulst has received research support from NINDS. Dr. Pulst has received intellectual property interests from a discovery or technology relating to health care.
Emily Spoth, Other (University of Utah) Ms. Spoth has stock in Applied Genetic Technologies Corporation. Ms. Spoth has stock in MeiraGTx Holdings. Ms. Spoth has stock in Ocugen. Ms. Spoth has stock in PTC Therapeutics.
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 $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 Sumaira Foundation for NMO. 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.