Neurological Research and Practice (Oct 2022)

Anti-SEZ6L2 antibodies in paraneoplastic cerebellar syndrome: case report and review of the literature

  • Annika Kather,
  • Florian Holtbernd,
  • Robert Brunkhorst,
  • Dimah Hasan,
  • Robert Markewitz,
  • Klaus-Peter Wandinger,
  • Martin Wiesmann,
  • Jörg B. Schulz,
  • Simone C. Tauber

DOI
https://doi.org/10.1186/s42466-022-00218-4
Journal volume & issue
Vol. 4, no. 1
pp. 1 – 7

Abstract

Read online

Abstract Seizure Related 6 Homolog Like 2 (SEZ6L2) protein has been shown to have implications in neuronal and especially motor function development. In oncology, overexpression of SEZ6L2 serves as a negative prognostic marker in several tumor entities. Recently, few cases of anti-SEZ6L2 antibody mediated cerebellar syndromes were reported. In this article, we present a case of a 70-year-old woman with subacute onset of gait disturbance, dysarthria and limb ataxia. Serum anti-SEZ6L2 antibodies were markedly increased, and further diagnostic workup revealed left sided breast cancer. Neurological symptoms and SEZ6L2 titer significantly improved after curative tumor therapy. This is a very rare and educationally important report of anti-SEZ6L2 autoimmune cerebellar syndrome with a paraneoplastic etiology. Additionally, we performed a review of the current literature for SEZ6L2, focusing on comparing the published cases on autoimmune cerebellar syndrome.