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Cognitive dysfunction and brain atrophy in Susac syndrome

Journal of Neurology volume 267, pages 994–1003 (2020)Cite this article

Abstract

Background

Susac syndrome is a very rare cerebral small vessel disease, which can leave patients with cognitive impairment. We aimed at evaluating processing speed slowing, executive dysfunction and apathy and their relationships with whole brain and callosal atrophy.

Methods

Patients with Susac syndrome included in a prospective observational cohort study were evaluated, while clinically steady-state, with standardized brain MRI and a neuropsychological battery specifically designed to capture minimal cognitive alterations in non-disabled young patients. Brain volume and corpus callosum area were measured using 3D-T1 sequences, repeatedly overtime. Relationships between neuropsychological data and brain volumetric measures obtained the same day were tested with linear regression while controlling for sex, age, level of education, scores of depression and of apathy.

Results

Nineteen patients aged 37.5 ± 10.5 years were included. Mean follow-up time was 2.6 ± 1.3 years (5.8 ± 2.2 evaluations). While Montreal Cognitive Assessment scores were 25.1 ± 3.6, processing speed slowing was obvious (Trail Making Test version A: 43.1 ± 16.2 s; version B: 95.5 ± 67.9 s; reaction time: 314.6 ± 79.6 ms). Brain and corpus callosum atrophy was striking. No relationship was found between cognitive performances and brain volume or corpus callosum area.

Conclusion

Patients with Susac syndrome show largely preserved global cognitive functions but important processing speed alterations. Although brain and corpus callosum area atrophy is prominent and evolving, we did not find any relationship with cognitive alterations, questioning the mechanisms underlying cognitive alterations in these patients.

Trial registration

Clinical Trial Registration-URL: https://www.clinicaltrials.gov Unique Identifier: NCT01481662

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Acknowledgements

Stéphanie Machado analyzed the data and drafted the manuscript. Eric Jouvent conceptualized the study, analyzed the data and revised the manuscript. Isabelle Klein designed the study. François De Guio analyzed the data. Carla Machado played a major role in the acquisition of data. Fleur Cohen Aubart designed the study. Karim Sacré designed the study. Thomas Papo designed the study and revised the manuscript

Funding

This work was supported by a PHRC grand from the French Ministry of Research (PHRC, CarESS Study).

Author information

Author notes

  1. Stéphanie Machado and Eric Jouvent contributed equally

Authors and Affiliations

  1. Department of Neurology, APHP, Lariboisière Hospital, F-75475, Paris, France

    Stéphanie Machado, Eric Jouvent, François De Guio & Carla Machado

  2. Univ Paris Diderot, Sorbonne Paris Cité, Paris, France

    Stéphanie Machado, Eric Jouvent & François De Guio

  3. UMR-S 1141 INSERM, Paris, France

    Eric Jouvent & François De Guio

  4. Department of Radiology, Clinique Alleray-Labrouste, Paris, France

    Isabelle Klein

  5. Department of Internal Medicine, Sorbonne Université, APHP, Pitié-Salpétrière Hospital, Paris, France

    Fleur Cohen-Aubart

  6. French National Center for Rare Systemic Diseases, Paris, France

    Fleur Cohen-Aubart

  7. Department of Internal Medicine, APHP, Bichat Hospital, Paris, France

    Karim Sacré & Thomas Papo

  8. DHU FIRE, (Fibrosis, Inflammation and Remodeling in Renal and Respiratory Diseases), Univ Paris Diderot, Sorbonne Paris Cité, Paris, France

    Karim Sacré & Thomas Papo

  9. INSERM UMR1149, Paris, France

    Karim Sacré & Thomas Papo

Authors
  1. Stéphanie Machado
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Corresponding author

Correspondence to Thomas Papo.

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Conflicts of interest

None of the authors have any competing interests.

Ethical standards

All patients gave their written consent to participate to the study, which was approved by an independent ethics committee. The study has been registered on ClinicalTrials.gov (Identifier: NCT01481662, 2009).

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Cite this article

Machado, S., Jouvent, E., Klein, I. et al. Cognitive dysfunction and brain atrophy in Susac syndrome. J Neurol 267, 994–1003 (2020). https://doi.org/10.1007/s00415-019-09664-8

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  • DOI: https://doi.org/10.1007/s00415-019-09664-8

Keywords

  • Susac syndrome
  • Brain atrophy
  • Processing speed slowing
  • Corpus callosum
  • Mild cognitive impairment