Abstract Details

Title Serum Neurofilament Light Chain Levels are Elevated in Stiff Person Syndrome Spectrum Disorders

Topic Autoimmune Neurology

Presentation(s) P1 - Poster Session 1 (8:00 AM-9:00 AM)

Poster/Presentation
Number 14-008

Objective To evaluate serum neurofilament light (sNfL) levels in seropositive Stiff Person Syndrome Spectrum Disorders (SPSD) and compare them with neuroinflammatory cases (multiple sclerosis - MS) and healthy controls (HC).

Background Blood and cerebrospinal fluid (CSF) NfL levels are reliable prognostic and monitoring biomarkers of neurological injury across various neurological diseases. Here, we provide an initial exploration of sNfL levels in patients with SPSD.

Design/Methods sNfL was measured in people with SPSD, MS, and HC participants using a high-throughput immunoassay (Siemens Healthineers). Age-specific cut-offs of sNfL levels were calculated using the HC data. MS participants with sNfL > the age-specific 97.5th percentile of HC were classified as having elevated sNfL (sNfL-E). Additional analyses included the age-normalized sNfL z-score as a continuous variable.

Results The majority of SPSD cases (n=20) were female (75%) with a median age (IQR) of 53 years old (44-58) and exhibited the classic phenotype (70%). Anti-GAD-65 antibody was present in the serum of all cases (100%) and CSF of 15 (75%). The mean sNfLz-scores in SPSD were 1.28 (SD 1.01) and 0.86 (SD 1.22) in MS cases. sNfL levels were significantly elevated compared to HC (p=4.27e-06) but not when compared to neuroinflammatory cases (p=0.179). We found significant differences between sNfL z-scores of mRS=4 and mRS=2 (p=0.0487). A negative correlation was found between the length of disease and sNfL z-score (rho=-0.46, p=0.04).

Conclusions Neurofilament light chain levels were elevated in the serum of patients with SPSD compared to healthy controls and similar to MS cases. Higher sNfL levels were associated with earlier stages of the disease and higher disability scores in patients with SPSD. Further studies are needed to assess whether sNfL could be a biomarker of evolving disease burden and/or treatment response in SPSD.

Authors/Disclosures
Maria I. Reyes, MD (Hospital Simon Bolivar) PRESENTER	Dr. Reyes has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Dr. Reyes has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Reyes has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Reyes has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Reyes has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Reyes has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis.
Susana Dominguez Penuela, MD	Dr. Dominguez Penuela has nothing to disclose.
Samantha Hao, MD	Ms. Hao has nothing to disclose.
Carlos A. Pardo-Villamizar, MD (Johns Hopkins U, Med Dept of Neurology)	The institution of Dr. Pardo-Villamizar has received research support from National Institutes of Health. The institution of Dr. Pardo-Villamizar has received research support from Bart McLean Fund for Neuroimmunology Research .
Kathryn Fitzgerald, PhD (Johns Hopkins University)	Dr. Fitzgerald has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Setpoint Medical. The institution of Dr. Fitzgerald has received research support from NIH. The institution of Dr. Fitzgerald has received research support from National MS Society.
Peter A. Calabresi, MD, FAAN (Johns Hopkins University)	Dr. Calabresi has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Calabresi has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Lilly. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Idorsia. An immediate family member of Dr. Calabresi has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for MyMD. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Myelin Repair Foundation. The institution of Dr. Calabresi has received research support from Genentech. Dr. Calabresi has received publishing royalties from a publication relating to health care. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Grant reveiwer with Myelin Repair Foundation. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Speaker for CME with NYAS. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Academic CME.
Scott D. Newsome, DO, FAAN (Johns Hopkins Hospital)	Dr. Newsome has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TG Therapeutics. The institution of Dr. Newsome has received research support from Biogen. The institution of Dr. Newsome has received research support from Genentech/Roche. The institution of Dr. Newsome has received research support from Department of Defense. The institution of Dr. Newsome has received research support from Patient Centered Outcomes Research Institute. The institution of Dr. Newsome has received research support from National MS Society. The institution of Dr. Newsome has received research support from Lundbeck. The institution of Dr. Newsome has received research support from Sanofi. The institution of Dr. Newsome has received research support from Kyverna Therapeutics. Dr. Newsome has received personal compensation in the range of $10,000-$49,999 for serving as a Lead PI for Clinical Trial with Roche.

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