Abstract Details

Title Investigating Cerebellar Atrophy by MRI as a Biomarker in Stiff Person Syndrome Spectrum Disorder and Anti-GAD65-associated Cerebellar Ataxia

Topic Autoimmune Neurology

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 8-010

Objective To determine whether cerebellar atrophy by MRI is associated with stiff person syndrome spectrum disorder (SPSD) phenotype.

Background Cerebellar and brainstem dysfunction are associated with greater disability in stiff person syndrome spectrum disorder (SPSD). Biomarkers, including MRI findings, that herald a more aggressive disease course may facilitate earlier identification of high-risk patients.

Design/Methods We identified patients in our stiff person syndrome (SPS) center database (1997-2024) with ≥1 brain MRI available. We included patients with SPSD: classic SPS, partial SPS, SPS-plus, and progressive encephalomyelitis with rigidity and myoclonus (PERM). Anti-GAD65-associated pure cerebellar ataxia (pCA) patients were also included. The first available and up to one follow-up brain MRI were reviewed by a neuroradiologist blinded to patient diagnosis/phenotype for qualitative determination of disproportionate cerebellar atrophy. Classic SPS/partial SPS (“classic SPS”) and SPS-plus/PERM/pCA (“non-classic SPSD”) were grouped for statistical comparison.

Results Of 315 screened patients, 162 were excluded (139 insufficient imaging, 23 non-SPSD/pCA phenotype), resulting in a cohort n=153 (91 classic SPS, 62 non-classic SPSD as defined above). The non-classic SPSD group included 44 (71%) with SPS-plus, 8 (13%) pCA, 10 (16%) PERM. Classic SPS and non-classic SPSD groups did not differ in age, sex, or disease duration. Cerebellar atrophy on initial MRI was present in 49/62 (79%) non-classic SPSD vs. 20/91 (22%, p<0.001) with classic SPS phenotypes. Excluding pCA, cerebellar atrophy was present in 42/54 (77.8%) of non-classic SPSD cases. Cerebellar atrophy progression on follow-up MRI occurred in 11/33 (33%) with non-classic SPSD vs. 1 of 35 (3%, p<0.001) classic SPS at median MRI interval 29 (IQR 13-70) months and 31 (IQR 16-65; p=0.75) months, respectively.

Conclusions Cerebellar atrophy is more common in SPSD patients known to have a poorer prognosis related to cerebellar/brainstem dysfunction compared to those with classic SPS. Prospective volumetric MRI studies are needed to confirm this finding and its potential implications.

Authors/Disclosures
Jonathan Krett, MD PRESENTER	Dr. Krett has nothing to disclose.
Daniela Riveros	Daniela Riveros has nothing to disclose.
Herbert Chen	Herbert Chen has nothing to disclose.
Hanyeh Afshar	Ms. Afshar has nothing to disclose.
Doris Lin, MD, PhD	Dr. Lin has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for ICON Medical Imaging. The institution of Dr. Lin has received research support from DoD.
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.

��ɫ��

��ɫ��