Objective: To describe a case of Stiff Person Syndrome which developed into Corticobasal Syndrome

Background: Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by stiffness, spasms, and hyperekplexia. It is diagnosed by detecting autoantibodies to glutamic acid decarboxylase (anti-GAD) in cerebrospinal fluid. Pharmacologic treatment includes symptomatic treatment, immunotherapy, and, if necessary, tumor treatment.¹ Corticobasal Syndrome (CBS) is a rare neurodegenerative disorder that presents with cortical and subcortical clinical manifestations (i.e., ideomotor apraxia, sensory neglect, alien limb phenomenon, akinetic-rigid parkinsonism), typically asymmetric in presentation, and represents the phenotypic expression of several different underlying pathologic processes.² Usually there is limited or no response to levodopa.³ There is only one article that reports two patients of anti-GAD positive SPS who also had signs suggestive of CBS, including asymmetric limb rigidity associated with asymmetric kinetic and ideomotor apraxia.⁴

Method: Clinical case description, imaging techniques, and bibliographic searches in Pubmed databases.

Results: A 73-year-old woman who started to have falls, leg cramps, and involuntary movements in 2004 (at the age of 53). She tested positive for anti-GAD in her cerebrospinal fluid and was diagnosed with stiff person syndrome in 2014. Immunoglobulin was given from 2014 to 2019 with a good response on rigidity. It was discontinued due to adverse effects. The patient has progressed since 2020 with marked asymmetric bradykinesia and rigidity, rest tremor, dysarthrophonia, dysphagia, myoclonus, and cognitive deficit. At the neurological exam, she presents restriction of vertical ocular motility (upward) and anterocolis. The clinical pattern is compatible with corticobasal syndrome. The neoplasm screening was negative. A levodopa trial showed a response in Parkinsonism but a worsening in behavior and humor. Currently, she is dependent on basic and instrumental activities of daily living.

Conclusion: There are some symptoms and signs that occur in both CBS and anti-GAD positive SPS, suggesting that these two disorders may share some pathogenic mechanisms. Future studies should evaluate patients with CBS for the presence of anti-GAD and people with SPS for the presence of signs of CBS.

References: 1. Vlad B, Wang Y, Newsome SD, Balint B. Stiff Person Spectrum Disorders-An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives. Biomedicines. 2023 Sep 10;11(9):2500. doi: 10.3390/biomedicines11092500. PMID: 37760941; PMCID: PMC10525659.
2. Remoli G, Schilke ED, Magi A, Ancidoni A, Negro G, Da Re F, Frigo M, Giordano M, Vanacore N, Canevelli M, Ferrarese C, Tremolizzo L, Appollonio I. Neuropathological hints from CSF and serum biomarkers in corticobasal syndrome (CBS): a systematic review. Neurol Res Pract. 2024 Jan 4;6(1):1. doi: 10.1186/s42466-023-00294-0. PMID: 38173024; PMCID: PMC10765833.
3. Arienti F, Lazzeri G, Vizziello M, Monfrini E, Bresolin N, Saetti MC, Picillo M, Franco G, Di Fonzo A. Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review. Cells. 2021 Jan 15;10(1):171. doi: 10.3390/cells10010171. PMID: 33467748; PMCID: PMC7830591.
4. Bowen LN, Subramony SH, Heilman KM. Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration? Ann Neurol. 2015 Jan;77(1):173-6. doi: 10.1002/ana.24245. Epub 2014 Dec 8. PMID: 25100431.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/stiff-person-syndrome-developing-into-corticobasal-syndrome-a-case-report/