# Stiff Person Syndrome With Positive Anti-glutamic Acid Decarboxylase (GAD) Autoantibodies

**Authors:** Najoua Maarad, Mounia Rahmani, Nazha Birouk, Adlaide Taho, Wadii Bnouhanna, Maria Benabdeljlil, Saadia Aïdi

PMC · DOI: 10.7759/cureus.67887 · Cureus · 2024-08-27

## TL;DR

This paper presents a case of a woman with stiff person syndrome linked to anti-GAD65 antibodies and her treatment response.

## Contribution

The novelty lies in reporting a specific case with detailed clinical features and treatment outcomes in anti-GAD65-associated SPS.

## Key findings

- The patient showed progressive rigidity and spasms with confirmed anti-GAD65 autoantibodies.
- Treatment with corticosteroids, immunoglobulins, and rituximab led to moderate improvement.
- Early diagnosis and comprehensive management are emphasized for better outcomes in SPS.

## Abstract

Stiff person syndrome (SPS) is a progressive autoimmune disorder characterized by muscle rigidity, frequent falls, and spasms, affecting primarily women. Recent advances have linked SPS to specific antibodies, such as anti-glutamic acid decarboxylase (GAD)-65, but effective treatments remain elusive. We report the case of a 53-year-old female who developed chronic lower back pain, tingling paresthesias, and progressive rigidity in the lower limbs. Electromyographic examination revealed muscle spasms and co-contractions, along with severe rigidity and reactive spasms upon touch. Imaging studies showed a polymyomatous uterus and no hypermetabolic lesions. She was diagnosed with stiff person syndrome with positive anti-GAD65 autoantibodies. Patient was treated with methylprednisolone, oral corticosteroids, gabapentin, baclofen, alprazolam, immunoglobulins, and rituximab, leading to moderate improvement in her condition. This case report aims to highlight the association between SPS and anti-GAD65 autoantibodies, emphasizing the importance of early diagnosis and comprehensive management.

## Linked entities

- **Proteins:** GAD2 (glutamate decarboxylase 2)
- **Chemicals:** methylprednisolone (PubChem CID 6741), gabapentin (PubChem CID 3446), baclofen (PubChem CID 2284), alprazolam (PubChem CID 2118)
- **Diseases:** stiff person syndrome (MONDO:0008491)

## Full-text entities

- **Genes:** GAD2 (glutamate decarboxylase 2) [NCBI Gene 2572] {aka GAD65}
- **Diseases:** SPS (MESH:D016750), paresthesias (MESH:D010292), muscle spasms (MESH:D013035), muscle rigidity (MESH:D009127), autoimmune disorder (MESH:D001327), polymyomatous uterus (MESH:D014594), lower back pain (MESH:D017116)
- **Chemicals:** alprazolam (MESH:D000525), baclofen (MESH:D001418), rituximab (MESH:D000069283), methylprednisolone (MESH:D008775), gabapentin (MESH:D000077206)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11347960/full.md

## References

16 references — full list in the complete paper: https://tomesphere.com/paper/PMC11347960/full.md

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Source: https://tomesphere.com/paper/PMC11347960