Clinical polymorphism of multiple system atrophy: a review of clinical cases (part 1)
https://doi.org/10.33667/2078-5631-2025-32-12-18
Abstract
Multisystem atrophy (MSA) is a sporadic progressive neurodegenerative disease that is manifested by a combination of autonomic and motor dysfunctions: parkinsonism, cerebellar ataxia, pyramidal syndrome, etc. Given the complexity of the diagnosis, the clinical polymorphism and the ignorance of neurologists about this disease, patients are often followed up by doctors of other profile or are observed with an incorrect diagnosis. There are two main MCA phenotypes – predominant cerebellar ataxia (MSA-C) and predominant parkinsonism (MSA-P), which are determined by the localization of the affected structures and the dominance of certain clinical symptoms. This article presents three clinical cases with different subtypes of MSA. Despite the difference in clinical manifestations, all patients was diagnosed with clinically established MSA. The features of the collection of complaints and anamnesis are described, the analysis of the neurological status and characteristic neuroimaging markers that can help in the differential diagnosis of this rare disease is carried out.
About the Authors
E. V. Bril
State Scientific Centre of the Russian Federation – Federal Medical Biophysical Centre n. a. A. I. Burnazyan; Russian Medical Academy of Continuous Professional Education
Russian Federation
Russian Federation
Bril Ekaterina V., Dr Med Sci (habil.), head of Neurological Center for Extrapyramidal Disorders, Mental and Cognitive Health, and the Clinical Neurophysiology Laboratory, head of Dept of Neurology; associate professor at Dept of Neurology
Moscow
O. S. Zimnyakova
State Scientific Centre of the Russian Federation – Federal Medical Biophysical Centre n. a. A. I. Burnazyan
Russian Federation
Russian Federation
Zimnyakova Olga S., PhD Med, neurologist at the Neurological Center for Extrapyramidal Disorders, Mental and Cognitive Health, and the Clinical Neurophysiology Laboratory; assistant at Dept of Neurology
Moscow
O. E. Turgunkhujaev
State Scientific Centre of the Russian Federation – Federal Medical Biophysical Centre n. a. A. I. Burnazyan
Russian Federation
Russian Federation
Turgunkhujaev Oybek E., assistant at Dept of Neurology
Moscow
E. S. Bagdasarova
State Scientific Centre of the Russian Federation – Federal Medical Biophysical Centre n. a. A. I. Burnazyan
Russian Federation
Russian Federation
Bagdasarova Elina S., clinical resident at Det of Neurology
Moscow
I. A. Zdorovec
State Scientific Centre of the Russian Federation – Federal Medical Biophysical Centre n. a. A. I. Burnazyan
Russian Federation
Russian Federation
Zdorovec Igor A., clinical resident at Dept of Neurology
Moscow
References
1. Garg D, Srivastava AK, Jaryal AK, Rajan R, Singh A, Pandit AK, Vibha D, Shukla G, Garg A, Pandey RM, Prasad K. Is There a Difference in Autonomic Dysfunction Between Multiple System Atrophy Subtypes? Mov Disord Clin Pract. 2020 Apr 9; 7 (4): 405–412. DOI: 10.1002/mdc3.12936. PMID: 32373657; PMCID: PMC 7197320.
2. Yamasaki TR, Holmes BB, Furman JL, Dhavale DD, Su BW, Song ES, Cairns NJ, Kotzbauer PT, Diamond MI. Parkinson's disease and multiple system atrophy have distinct α-synuclein seed characteristics. J Biol Chem. 2019 Jan 18; 294 (3): 1045–1058. DOI: 10.1074/jbc.RA118.004471. Epub 2018 Nov 26. PMID: 30478174; PMCID: PMC 6341389.
3. Wenning GK, Colosimo C, Geser F, Poewe W. Multiple system atrophy. Lancet Neurol. 2004 Feb; 3 (2): 93–103. DOI: 10.1016/s1474-4422 (03) 00662‑8
4. Stankovic I, Quinn N, Vignatelli L, Antonini A, Berg D, Coon E, Cortelli P, Fanciulli A, Ferreira JJ, Freeman R, Halliday G, Höglinger GU, Iodice V, Kaufmann H, Klockgether T, Kostic V, Krismer F, Lang A, Levin J, Low P, Mathias C, Meissner WG, Kaufmann LN, Palma JA, Panicker JN, Pellecchia MT, Sakakibara R, Schmahmann J, Scholz SW, Singer W, Stamelou M, Tolosa E, Tsuji S, Seppi K, Poewe W, Wenning GK; Movement Disorder Society Multiple System Atrophy Study Group. A critique of the second consensus criteria for multiple system atrophy. Mov Disord. 2019 Jul; 34 (7): 975–984. DOI: 10.1002/mds.27701. Epub 2019 Apr 29. PMID: 31034671; PMCID: PMC 6737532.
5. Wenning G. K., Stankovic I., Vignatelli L., Fanciulli et al. (2022), The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy. Mov Disord. 37: 1131–1148. https://doi.org/10.1002/mds.29005
6. O. S. Levin, S. N. Illarioshkin, V. L. Golubev. Extrapyramidal syndromes: A guide for doctors. Moscow: MEDpress-inform, 2022. 772 p. (In Russ.).
7. Burns MR, McFarland NR. Current Management and Emerging Therapies in Multiple System Atrophy. Neurotherapeutics. 2020 Oct; 17 (4): 1582–1602. DOI: 10.1007/s13311-020-00890-x. PMID: 32767032; PMCID: PMC 7851250.
8. Bendetowicz D, Fabbri M, Sirna F, Fernagut PO, Foubert- Samier A, Saulnier T, Le Traon AP, Proust-Lima C, Rascol O, Meissner WG. Recent Advances in Clinical Trials in Multiple System Atrophy. Curr Neurol Neurosci Rep. 2024 Apr; 24 (4): 95–112. DOI: 10.1007/ s11910‑024‑01335‑0. Epub 2024 Feb 28. PMID: 38416311.
9. Ho M, Mahsoub M, Colovic H. et al. Multiple system atrophy. Reference article, Radiopaedia.org (Accessed on 29 Mar 2025). https://doi.org/10.53347/rID‑7271
10. Gaillard F, Sharma R, Rezaee A. et al. Putaminal rim sign. Reference article, Radiopaedia.org (Accessed on 29 Mar 2025). https://doi.org/10.53347/rID‑36772
11. Ershova M. V., Akhmadullina D. R., Fedotova E. Yu., Illarioshkin S. N. Modern concepts of multisystem atrophy. Nervnye Bolezni. 2018; 4: 3–13. (In Russ.). https://doi.org/10.24411/2226‑0757‑2019‑12051
12. Poewe W., Stankovic I., Halliday G. et al. Multiple system atrophy. Nat Rev Dis Primers. 2022; 8: 56. https://doi.org/10.1038/s41572‑022‑00382‑6
13. Stankovic I., Fanciulli A., Sidoroff V. et al. A Review on the Clinical Diagnosis of Multiple System Atrophy. Cerebellum. 2023; 22: 825–839. https://doi.org/10.1007/s12311-022-01453-w
14. Chelban Viorica, Nikram Elham, Perez-Soriano Alexandra, Wilke Carlo et al. Neurofilament light levels predict clinical progression and death in multiple system atrophy, Brain.2022 Dec; 145 (12): 4398–4408. https://doi.org/10.1093/brain/awac253
15. Gibbons C, Wang N, Rajan S, Kern D, Palma JA, Kaufmann H, Freeman R. Cutaneous α-Synuclein Signatures in Patients With Multiple System Atrophy and Parkinson Disease. Neurology. 2023 Apr 11; 100 (15): e1529–e1539. DOI: 10.1212/ WNL.0000000000206772. Epub 2023 Jan
16. Erratum in: Neurology. 2023 Oct 10; 101 (15): 684. DOI: 10.1212/WNL.0000000000207614. PMID: 36657992; PMCID: PMC 10103107.
Review
For citations:
Bril E.V., Zimnyakova O.S., Turgunkhujaev O.E., Bagdasarova E.S., Zdorovec I.A. Clinical polymorphism of multiple system atrophy: a review of clinical cases (part 1). Medical alphabet. 2025;(32):12-18. (In Russ.) https://doi.org/10.33667/2078-5631-2025-32-12-18
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