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Eur J Neurol. 2021 Jul;28(7):e57-e59. doi: 10.1111/ene.14836. Epub 2021 Apr 07.

Hunting for the genetic basis of Susac syndrome.

European journal of neurology

Clemence David, Thomas Papo, Ibrahima Ba, Emmanuelle Ollivier, Catherine Boileau, Philippe Dieudé, Boris Keren, Caroline Kannengiesser, Karim Sacre

Affiliations

  1. Département de Médecine Interne, Assistance Publique Hôpitaux de Paris, Hôpital Bichat, Université de Paris, Paris, France.
  2. INSERM U1149, Paris, France.
  3. Département de Génétique, Assistance Publique Hôpitaux de Paris, Hôpital Bichat, Université de Paris, Paris, France.
  4. INSERM UMR U1152, Paris, France.
  5. Institut Imagine, Paris, France.
  6. INSERM UMR U1148, Paris, France.
  7. Département de Rhumatologie, Assistance Publique Hôpitaux de Paris, Hôpital Bichat, Université de Paris, Paris, France.
  8. Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.

PMID: 33773011 DOI: 10.1111/ene.14836

[No abstract available.]

Keywords: Susac; genetics; microvasculopathy

References

  1. Kleffner I, Dörr J, Ringelstein M, et al. Diagnostic criteria for Susac syndrome. J Neurol Neurosurg Psychiatry. 2016;87:1287-1295. - PubMed
  2. Dörr J, Krautwald S, Wildemann B, et al. Characteristics of Susac syndrome: a review of all reported cases. Nat Rev Neurol. 2013;9:307-316. - PubMed
  3. Agamanolis DP, Klonk C, Bigley K, Rennebohm RM. Neuropathological findings in Susac syndrome: an autopsy report. J Neuropathol Exp Neurol. 2019;78:515-519. - PubMed
  4. Gross CC, Meyer C, Bhatia U, et al. CD8 + T cell-mediated endotheliopathy is a targetable mechanism of neuro-inflammation in Susac syndrome. Nat Commun. 2019;10:5779. - PubMed
  5. Giau VV, Bagyinszky E, Youn YC, An SSA, Kim SY. Genetic factors of cerebral small vessel disease and their potential clinical outcome. Int J Mol Sci. 2019;20. - PubMed
  6. Jung J, Udhaya Kumar S, Choi I, Huh T-L, Rhee M. Znf76 is associated with development of the eyes, midbrain, MHB, and hindbrain in zebrafish embryos. Anim Cells Syst (Seoul). 2019;23:26-31. - PubMed
  7. Machado S, Jouvent E, Klein I, et al. Cognitive dysfunction and brain atrophy in Susac syndrome. J Neurol. 2020;267:994-1003. - PubMed

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