Objective:

Background:

Antibodies against glycine receptors, while originally implicated in progressive encephalopathy with rigidity and myoclonus (PERM), have been described in those with other clinical presentations of stiff person syndrome (SPS) spectrum disorders. Limited literature exists characterizing anti-glycine receptor antibody-related disease.

Design/Methods:

Retrospective chart review was undertaken on all patients with confirmed anti-glycine receptor antibody-related disease from 2004-2025 in our center. Demographic data, clinical characteristics, treatments and outcomes were collected. Wilcoxon signed‑rank test was used to compare paired outcomes. 

Results:

We identified 14 patients; 10 (71%) were female, with a median follow-up of 51 months (range, 0-123). Median age of symptom onset was 35.8 years (range, 14.7-67.7), and median time to diagnosis was 24 months (range, 1-242), with all but one misdiagnosed initially. Disease presentations included 9 classic SPS, 3 SPS-plus and 2 PERM. Diagnostic workup was notable for abnormal neurophysiology in 7 and abnormal neuroimaging (MRI or PET-Brain) in 4. At last follow-up, ongoing symptoms included stiffness/rigidity in 13, spasms in 12, pain in 12 along with anxiety in 11 and depression in 7. Hypersensitivity triggers were persistent in 12. Common exam findings included hyperlordosis in 8, rigidity in 12 and paraspinal muscle stiffness in 11. All were on benzodiazepines, gabapentinoids and/or antispasmodics, and 12 were on immunotherapy at last follow-up. There was no significant change between first and last visits in mRS (median 2.5 vs. 2; V=3, p=1) or timed 25-foot walk test (median 9.7 seconds vs. 9.3; V=42, p=0.85). 

Conclusions:

These findings contribute to the evolving characterization of anti-glycine receptor antibody-related diseases and highlight the potential for long-term disease stability under consistent therapeutic interventions.