Research and key publications
Buzzard KA, Reddel SW, Yiannikas C, Sean Riminton D, Barnett MH, Hardy TA. 2015. Distinguishing Susac's syndrome from multiple sclerosis. J Neurol 262(7):1613-21. DOI: 10.1007/s00415-014-7628-9.
This review highlights key clinical, MRI and CSF features that distinguish Susac syndrome from MS.
Cohen DA, Tajfirouz D, Vodopivec I, Kyle K, Bouffard MA, Bhattacharyya S, Douglas VC, Rasool N, Bhatti MT, McKeon A, Pittock S, Flanagan EP, Prasad S, Nagagopal V, Egan RA, Chen JJ, Chwalisz BK. 2023. Fluorescein Angiography Findings in Susac Syndrome: A Multicenter Retrospective Case Series. J Neuro-Ophthalmol 43(4):481–490.
New leakage on FA is identified as the most sensitive marker of active disease.
David C, Sacré K, Henri-Feugeas MC, Klein I, Doan S, Cohen FA, Jouvent E, Papo T. 2022. Susac syndrome: A scoping review. Autoimmun Rev 21(6):103097. DOI: 10.1016/j.autrev.2022.103097.
A synthesis of clinical presentation, diagnostic challenges, pathophysiology, and therapeutic approaches.
De Baerdemaeker K, Mabiglia C, Hantson P, Di Fazio V, Duprez T, Kozyreff A, van Pesch V, Sellimi A. 2020. Acute Susac Syndrome in a Recent User of Adulterated Cocaine: Levamisole as a Triggering Factor? Case Rep Neurol 12(1):78-83. DOI: 10.1159/000506043.
Explores the potential role of levamisole (found in adulterated cocaine) as a trigger for Susac syndrome.
Dekeyser C, Vanhoorne A, Hemelsoet D, Van Hijfte L, De Zaeytijd J, Van Driessche V, Van Hoecke H, Miatton M, Van Vrekhem T, Maes L, Laureys G. 2023. Atypical clinical and novel radiological findings in Susac syndrome: Experience from a large monocentric cohort. J Neuroimmunol 376:578032. DOI: 10.1016/j.jneuroim.2023.578032.
Details on a monocentric cohort with novel clinical and radiological findings in Susac syndrome.
Dörr J, Krautwald S, Wildemann B, Jarius S, Ringelstein M, Duning T, Aktas O, Ringelstein EB, Paul F, Kleffner I. 2013. Characteristics of Susac syndrome: a review of all reported cases. Nat Rev Neurol 9(6):307-16. DOI: 10.1038/nrneurol.2013.82.
A comprehensive review of all reported cases of Susac syndrome.
Fuchs L, Wilf-Yarkoni A, Kolb H, Vigiser I, Regev K, Zur D, Habot-Wilner Z, Oron Y, Furer V, Shimon N, Hellmann MA, Lotan I, Auriel E, Rennebohm R, Elkayam O, Karni A. 2025. Clinical Characterization and Prognostic Risk Factors of Susac Syndrome: A Retrospective Multicenter Study. Neurol Neuroimmunol Neuroinflamm 12(2):e200357.
Investigation of prognostic factors associated with disease severity and progression to improve risk stratification.
Gross CC, Meyer C, Bhatia U, Yshii L, Kleffner I, Bauer J, Tröscher AR, Schulte-Mecklenbeck A, Herich S, Schneider-Hohendorf T, Plate H, Kuhlmann T, Schwaninger M, Brück W, Pawlitzki M, Laplaud DA, Loussouarn D, Parratt J, Barnett M, Bickland ME, Hardy TA, Reddel SW, Ringelstein M, Dörr J, Wildemann B, Kraemer M, Lassmann H, Höftberger R, Beltrán E, Dornmair K, Schwab N, Klotz L, Meuth SG, Martin-Bondel G, Wiendl H, Liblau R. 2019. CD8(+) T cell-mediated endotheliopathy is a targetable mechanism of neuro-inflammation in Susac syndrome. Nat Comm 10:5779. DOI: 10.1038/s41467-019-13593-5. Open access.
This study identified Susac syndrome as an antigen-specific, CD8+ T cell-mediated endotheliopathy affecting the microvessels of the brain, retina, and inner ear.
Hardy TA, O'Brien B, Gerbis N, Barnett MH, Reddel SW, Brewer J, Herkes GK, Silberstein P, Garsia RJ, Watson JD, Gupta R, Parratt JD, Buckland ME. 2015. Brain histopathology in three cases of Susac's syndrome: implications for lesion pathogenesis and treatment. J Neurol Neurosurg Psychiatry 86(5):582-4.
Histopathological analysis demonstrating T-cell-mediated microvascular inflammation and endothelial injury.
Hantson P, Di Fazio V, Del Mar Ramirez Fernandez M, Samyn N, Duprez T, van Pesch V. 2015. Susac-like syndrome in a chronic cocaine abuser: could levamisole play a role? J Med Toxicol 11(1):124-8. DOI: 10.1007/s13181-014-0422-3.
Discusses a Susac-like presentation in a cocaine user, suggesting levamisole as a possible contributing factor.
Jarius S, Kleffner I, Dörr JM, Sastre-Garriga J, Illes Z, Eggenberger E, Chalk C, Ringelstein M, Aktas O, Montalban X, Fechner K, Stöcker W, Ringelstein EB, Paul F, Wildemann B. 2014. Clinical, paraclinical and serological findings in Susac syndrome: an international multicenter study. J Neuroinflammation 11:46. DOI: 10.1186/1742-2094-11-46. International multicenter study on the clinical and serological profile of Susac syndrome.
Kachaner A, Mageau A, Goulenok T, François C, Delory N, Chauveheid MP, Laouenan C, Doan S, Halimi C, Klein I, Papo T, Sacré K, French Susac Study Group. 2025. Immunosuppressive agents or intravenous immunoglobulin in addition to glucocorticoids in the treatment of Susac syndrome: a French national cohort study. Lancet Rheumatol 7(1):e15-e20. DOI: 10.1016/S2665-9913(24)00220-0.
Evaluation of adding immunosuppressants or IVIG to glucocorticoids, showing no significant difference in relapse-free survival.
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T, European Susac Consortium (EuSaC). 2016. Diagnostic criteria for Susac syndrome. J Neurol Neurosurg Psychiatry 87(12):1287-1295. DOI: 10.1136/jnnp-2016-314295.
Establishes the standardized diagnostic criteria for Susac syndrome.
Kleffner I, Deppe M, Mohammadi S, Schiffbauer H, Stupp N, Lohmann H, Young P, Ringelstein EB. 2008. Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. Neurology 70(19 Pt 2):1867-1869.
Suggests microstructural white-matter fibre impairment, providing evidence of brain tissue damage beyond conventional MRI.
Marrodan M, Calandri IL, Bocancea DI, Ysrraelit MC, Gomez Figueroa E, Massó Páez M, Flores JDJ, Rojas JI, Ciampi E, Ioli P, Zanga G, Ardohain C, Fracaro ME, Amaya M, Tkachuk V, Fernandez VC, José G, Silva E, Luetic G, Carnero Contentti E, Köhler E, Pagani Cassara F, Moran D, Seimandi C, Paviolo JP, D'elio B, Da Prat G, Gatto E, Cristiano E, Pujol Lereis V, Ameriso SF, Fiol MP, Correale J. 2024. Diagnostic MRI Score to Differentiate Susac Syndrome from Primary Angiitis of the Central Nervous System and Multiple Sclerosis. Ann Neurol 96(5):846-854. DOI: 10.1002/ana.27043.
Development of an MRI diagnostic score for differential diagnosis.
Marrodan M, Correale J, Alessandro L, Amaya M, Fracaro ME, Köhler AA, Fiol M. 2017. Susac Syndrome: A differential diagnosis of white matter lesions. Mult Scler Relat Disord 15:42-46. DOI: 10.1016/j.msard.2017.04.007.
A clinico-radiological approach to the differential diagnosis of white matter lesions.
Marrodan M, Fiol MP, Correale J. 2022. Susac syndrome: challenges in the diagnosis and treatment. Brain 145(3):858-871. DOI: 10.1093/brain/awab476.
A comprehensive review of diagnostic and treatment challenges.
Moheb N, Tajfirouz DA, Chodnicki KD, McKeon A, Rattanathamsakul N, Salman AR, Rettenmaier LA, Varma-Doyle A, Chwalisz BK, Chen JJ. 2025. Outcomes of maintenance immunotherapy in a cohort of patients with Susac syndrome: a 2-center large case series. Neurol Clin Pract 15(6):e200544.
Evaluation of relapse rates on various maintenance immunotherapies.
Peyre M, Mageau A, Henry Feugeas MC, Doan S, Halimi C, Klein I, Goulenok T, François C, Chauveheid MP, Papo T, Sacré K, French Susac Study Group. 2024. Risk factors for severe hearing loss in Susac syndrome: A national cohort study. Eur J Neurol 31(5):e16211. DOI: 10.1111/ene.16211.
Investigation of risk factors for severe hearing loss, noting the benefit of immunosuppressive treatment at diagnosis.
Ringelstein M, Albrecht P, Kleffner I, Bühn B, Harmel J, Müller AK, Finis D, Guthoff R, Bergholz R, Duning T, Krämer M, Paul F, Brandt A, Oberwahrenbrock T, Mikolajczak J, Wildemann B, Jarius S, Hartung HP, Aktas O, Dörr J. 2015. Retinal pathology in Susac syndrome detected by spectral-domain optical coherence tomography. Neurology 85(7):610-8. DOI: 10.1212/WNL.0000000000001852.
Analysis of retinal pathology using spectral-domain optical coherence tomography.
Roelens A, Vandekerckhove M, Maes L, Dekeyser C, Hemelsoet D, Van Driessche V, Miatton M, Van Hijfte L, De Zaeytijd J, Van Vrekhem T, Laureys G, Van Hoecke H. 2025. Phenotyping vestibulocochlear manifestations in Susac syndrome: a cohort study. Eur Arch Otorhinolaryngol 282(3):1189-1200. DOI: 10.1007/s00405-024-09011-2.
Deep phenotyping of vestibulocochlear impairment, treatment, and outcomes in Susac syndrome.
Schwab N, Dawin E, Schneider-Hohendorf T, Schulte-Mecklenbeck A, Kraemer M, May D, Wünsch C, Falk S, Li J, Kaufmann L, Katsounas A, Schumann EM, Woodhouse S, Howie B, Klinger M, Osborne AJ, Moy J, Schlüter B, Hardy TA, Hemelsoet D, Marrodan M, Jarius S, Ruprecht K, Wildemann B, Wokke B, Wilf-Yarkoni A, Willekens B, Seliger C, Bauer J, Liblau R, Fokker M, Paul F, Meyer zu Hörste G, Otto C, Dörr J, Ringelstein M, Kühn J, Robins HS, Laureys G, Klotz L, Meuth SG, Wiendl H, Kleffner I, Gross CC. 2026. Universal seropositivity, markers of recurrent reactivation, and a convergent T-cell response implicate cytomegalovirus in Susac syndrome. Universal seropositivity, markers of recurrent reactivation, and a convergent T-cell response implicate cytomegalovirus in Susac syndrome | Research Square
Demonstrates universal CMV seropositivity in Susac patients and implicates recurrent CMV activity in the CD8+ T-cell mediated endotheliopathy.
Stinissen R, Tukanov E, Wyckmans M, Kerstens J, Willekens B. 2023. Clinical characteristics and treatment approaches in patients with Susac syndrome: a scoping review of cases. J Neurol. DOI: 10.1007/s00415-023-11936-3.
A review gathering published patient cases into a single overview of clinical presentation and treatment practice.
Stinissen R, Wyckmans M, Tukanov E, Kerstens J, Willekens B. 2023. Quality of Life in patients with Susac Syndrome – Identifying themes and pitfalls. Eur J Neurol 30(Suppl 1):697. Identifies patient-centered quality-of-life themes essential for long-term care.
Triplett JD, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Ip J, Chan F, Chen L, Wilson I, Muller C, Beadnall HN, Boggild M, Van der Walt A, Roxburgh R, Seery N, Kalincik T, Barnett MH, Parratt JDE, Reddel SW, Tsang B, Hardy TA. 2022. Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome. Eur J Neurol 29(6):1771-1781.
Highlights substantial diagnostic delay and frequent misdiagnosis of Susac syndrome.
Van Vrekhem T, Miatton M, Hemelsoet D, Van Hijfte L, Dekeyser C, De Zaeytijd J, Van Driessche V, Van Hoecke H, Maes L, Laureys G. 2024. Cognitive outcomes in Susac syndrome: A 2-year neuropsychological follow-up study. Eur J Neurol 31(4):e16186. DOI: 10.1111/ene.16186.
Extensive cognitive testing and evolution/outcomes over a 2-year follow-up in Susac syndrome.
Wilf-Yarkoni A, Elkayam O, Aizenstein O, Oron Y, Furer V, Zur D, Goldstein M, Barequet D, Hallevi H, Karni A, Habot-Wilner Z, Regev K. 2020. Increased incidence of Susac syndrome: a case series study. BMC Neurol 20:332.
Investigated the increased incidence of Susac syndrome in Israel and possible association with CMV infection.
Wilf-Yarkoni A, Zmira O, Tolkovsky A, Pflantzer B, Gofrit SG, Kleffner I, Paul F, Dörr J. 2024. Clinical Characterization and Ancillary Tests in Susac Syndrome: A Systematic Review. Neurol Neuroimmunol Neuroinflamm 11(3):e200209.
A comprehensive systematic review focusing on clinical manifestations and the role of ancillary diagnostic tests.
Willekens B, Kleffner I. 2021. Susac syndrome and pregnancy: a review of published cases and considerations for patient management. Ther Adv Neurol Disord.
The first focused review providing practical guidance for managing Susac syndrome during pregnancy.
Wiendl H, Gross CC, Bauer J, Merkler D, Prat A, Liblau R. 2021. Fundamental mechanistic insights learned from rare but paradigmatic neuro-immunological diseases. Nat Rev Neurol 17:433-447. DOI: 10.1038/s41582-021-00496-7.
Review of the role of cytotoxic CD8+ T cells in the pathophysiology of Susac syndrome and other neuro-immunological diseases.