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Neurology International
Volume 18
Issue 8
10.3390/neurolint18080143
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Case Report

Phenotypic Spectrum, Diagnostic Challenges, and Clinical Outcomes in Stiff Person Syndrome: A Single-Center Case Series

by
M-Isabel Eraso
1,2,*,
Angela Carolina-Rosero
1,2,
Alma-Fuentes
1,2,
Melissa-Luque
1,2,
Maria Angelica-Coronel
1,2,
Luis Fontanilla
1,
Juan Camilo Rodriguez
1,2 and
Narledys Bravo Nunez
1
1
Facultad de Ciencias de la Salud, Universidad Simón Bolívar, Barranquilla 080001, Colombia
2
Clínica la Misericordia Internacional, Barranquilla 080001, Colombia
*
Author to whom correspondence should be addressed.
Neurol. Int. 2026, 18(8), 143; https://doi.org/10.3390/neurolint18080143
Submission received: 10 May 2026 / Revised: 12 June 2026 / Accepted: 17 June 2026 / Published: 28 July 2026
(This article belongs to the Section Movement Disorders and Neurodegenerative Diseases)
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Abstract

Introduction: Stiff-Person Syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive muscle rigidity and painful spasms, primarily affecting axial and proximal musculature. Its diagnosis can be challenging due to clinical overlap with other neurological conditions such as spasticity, dystonia, or functional movement disorders. The detection of antibodies against glutamic acid decarboxylase (anti-GAD) is a key biomarker that supports diagnosis. Methods: Two clinical cases of patients with manifestations consistent with classic SPS are described, and were evaluated in a specialized neurology service. Both patients underwent detailed clinical assessment, complementary studies, and serum testing for anti-GAD antibodies. Results: Both patients presented with progressive rigidity and fluctuating muscle spasms, predominantly involving axial musculature. After an extensive diagnostic workup, elevated anti-GAD antibody titers were documented in both cases, confirming the diagnosis of classic SPS. Treatment with medications enhancing GABAergic neurotransmission was associated with significant clinical improvement, evidenced by reduced rigidity and the decreased frequency of spasms. Conclusions: These cases highlight the importance of considering SPS in the differential diagnosis of progressive rigidity syndromes. Identification of anti-GAD antibodies is essential for diagnostic confirmation, and treatment that aims to enhance GABAergic neurotransmission can significantly improve symptoms and patient functionality.
Keywords: stiff-person syndrome; anti-GAD antibodies; autoimmune neurological disorders; muscle rigidity; GABA stiff-person syndrome; anti-GAD antibodies; autoimmune neurological disorders; muscle rigidity; GABA

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MDPI and ACS Style

Eraso, M.-I.; Carolina-Rosero, A.; Alma-Fuentes; Melissa-Luque; Angelica-Coronel, M.; Fontanilla, L.; Rodriguez, J.C.; Nunez, N.B. Phenotypic Spectrum, Diagnostic Challenges, and Clinical Outcomes in Stiff Person Syndrome: A Single-Center Case Series. Neurol. Int. 2026, 18, 143. https://doi.org/10.3390/neurolint18080143

AMA Style

Eraso M-I, Carolina-Rosero A, Alma-Fuentes, Melissa-Luque, Angelica-Coronel M, Fontanilla L, Rodriguez JC, Nunez NB. Phenotypic Spectrum, Diagnostic Challenges, and Clinical Outcomes in Stiff Person Syndrome: A Single-Center Case Series. Neurology International. 2026; 18(8):143. https://doi.org/10.3390/neurolint18080143

Chicago/Turabian Style

Eraso, M-Isabel, Angela Carolina-Rosero, Alma-Fuentes, Melissa-Luque, Maria Angelica-Coronel, Luis Fontanilla, Juan Camilo Rodriguez, and Narledys Bravo Nunez. 2026. "Phenotypic Spectrum, Diagnostic Challenges, and Clinical Outcomes in Stiff Person Syndrome: A Single-Center Case Series" Neurology International 18, no. 8: 143. https://doi.org/10.3390/neurolint18080143

APA Style

Eraso, M.-I., Carolina-Rosero, A., Alma-Fuentes, Melissa-Luque, Angelica-Coronel, M., Fontanilla, L., Rodriguez, J. C., & Nunez, N. B. (2026). Phenotypic Spectrum, Diagnostic Challenges, and Clinical Outcomes in Stiff Person Syndrome: A Single-Center Case Series. Neurology International, 18(8), 143. https://doi.org/10.3390/neurolint18080143

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