Abstract Details

Title A Familial Analysis of Neurosarcoidosis Utilizing the Utah Population Database

Topic Autoimmune Neurology

Presentation(s) P9 - Poster Session 9 (5:30 PM-6:30 PM)

Poster/Presentation
Number 6-008

Objective

To investigate for evidence of familial clustering within a large cohort of patients with Neurosarcoidosis utilizing the Utah Population Database.

Background 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.

Design/Methods We performed a retrospective review of all definite and probable neurosarcoidosis patients diagnosed and managed at our institution. Using the Utah Population Database (UPDB), a population-based genealogic resource containing medical and demographic information of over 11 million individuals, we identified high-risk pedigrees with excess familial aggregation of neurosarcoidosis using the Familial Standardized Incidence Ratio (FSIR). Unaffected subjects were identified and matched 10:1 to neurosarcoidosis patients by age, birth year, and pedigree structure in the UPDB. Familial risk analyses were performed to estimate the heritability of neurosarcoidosis FDRs, SDRs, and TDRs separately using multivariate logistic regression adjusting for sex, birth year, race, and ethnicity.

Results Out of the 54 patients in the cohort, the median age of patients was 63 years (SD 12 years), 36(66%) were female and 46 (85%) self-identified as Caucasian. A total of 12 (22%) had definite neurosarcoidosis and 42 (78%) had probable neurosarcoidosis. The initial symptom of sarcoidosis was neurologic in 34 (63%) of the patients. We studied the inter-relatedness of the patients with neurosarcoidosis.

Conclusions Neurosarcoidosis is a rare disease and thought to be a manifestation of a multisystem disease in which familial clustering and genetic analysis suggests that inherited factors play a role in the pathogenesis which requires further investigation.

Authors/Disclosures
Paul D. Crane, MD (University of Colorado) PRESENTER	Dr. Crane has nothing to disclose.
Justin Abbatemarco, MD	Dr. Abbatemarco has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. Dr. Abbatemarco has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Horizon. Dr. Abbatemarco 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 . Dr. Abbatemarco has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TG Therapeutics, Inc.. Dr. Abbatemarco has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen. The institution of Dr. Abbatemarco has received research support from Amgen.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Ka-Ho Wong (U of U Neurology Clinic)	The institution of Mr. Wong has received research support from The Sumaira Foundation . The institution of Mr. Wong has received research support from The Siegel Rare Neuroimmune Association.
Jennifer Lord, MD (Novant Health)	Dr. Lord has nothing to disclose.
Tammy L. Smith, MD, PhD (Imaging and Neurosciences Center)	Dr. Smith has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. The institution of Dr. Smith has received research support from Alexion/AstraZeneca.
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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