Objective: We aimed to analyze clinical and immunologic features of a cohort of stiff-person spectrum disorder (SPSD) patients, who have been clinically managed by us in recent years.

Background: To date, the largest cohort of SPSD patients was analyzed in a work by Martinez-Hernandez et al. (2016) and included 121 subjects. In Russia, only single case reports have been published. We present a relatively large cohort of 20 patients with SPSD.

Method: A retrospective analysis of health records of 20 patients diagnosed by our group with SPSD during the period of 2015–2019 was performed. Patients have been followed at the Research Center of Neurology (Moscow), Buyanov Moscow City Clinical Hospital, and City General Hospital No. 2 (St. Petersburg). All available demographic, clinical, and laboratory data were extracted from the health records together with the results of EMG and neuroimaging studies.

Results: Out of 20 patients only 2 were men. The median age-at-onset was 50 years ranging from 22 to 69. The median of the time from the first symptom onset to the correct diagnosis was 29 months (14.25; 64). Nobody was referred with an initially diagnosed or suspected SPSD. The most frequent diagnostic ‘masks’ were ‘degenerative spine disease’ and ‘somatoform disorder’. In most cases, stiffness distribution was quite typical. Most common first complaints included stiffness in lumbar region and thighs as well as painful muscle spasms. Eighteen patients were found to have serum antibodies to GAD65, 2 were negative for serum antibodies to both GAD65 and amphiphysin, of whom 1 was positive for CSF anti-GAD65. Five patients were diagnosed with type 2 diabetes. Six patients had cerebellar signs, 13 experienced falls, and 2 had epileptic seizures. In 6 subjects, symptomatic therapy only was enough to sufficiently improve clinical status, whereas other demanded immunotherapy.

Conclusion: The demographic data were consistent with that published on SPSD. The time from the first symptom onset to the conclusive diagnosis was similar to, and even slightly shorter than, that in the study by Rakocevic et al. (2019). Causes of diagnostic pitfalls in SPSD may include (1) insufficient awareness among medical specialists and (2) misinterpretations by the physicians of the unusual or non-specific complaints at the disease onset. Clinical and EMG features are of great importance given that occasional SPSD cases may be antibody-negative.

References: 1. Martinez-Hernandez, E., H. Ariño, A. McKeon, T. Iizuka, M. J. Titulaer, M. M. Simabukuro, E. Lancaster, M. Petit-Pedrol, J. Planagumà, and Y. Blanco (2016), Clinical and immunologic investigations in patients with stiff-person spectrum disorder, JAMA neurology, 73(6), 714-720. 2. Rakocevic, G., H. Alexopoulos, and M. C. Dalakas (2019), Quantitative clinical and autoimmune assessments in stiff person syndrome: evidence for a progressive disorder, BMC neurology, 19(1), 1.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/stiff-person-spectrum-disorders-in-russia-a-retrospective-analysis-of-20-cases/