Journal of Neurology

, Volume 266, Issue 2, pp 522–524 | Cite as

Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism

  • Max Borsche
  • Stefanie Hahn
  • Henrike Hanssen
  • Alexander Münchau
  • Klaus-Peter Wandinger
  • Norbert BrüggemannEmail author
Letter to the Editors

Dear Sirs,

Recent advances in the identification of immunological causes for movement disorders have opened a new avenue to causally treat these often severely disabling diseases. Immunological processes may be related to secondary underlying disease causes or may occur without known association to such conditions. The detection of antibodies against intracellular structures or surface antigens may be helpful in the diagnostic workup although their significance with regard to disease mechanisms is controversial. Thus, the presence of an antibody may be unspecific, may serve as a biomarker indicating an underlying autoimmunological process or may directly be involved in the disease process. Complicating matters, antibody-associated neurological syndromes may occur without overt inflammatory signs, particularly in the elderly population [1].

Here, we report the second patient with rapidly progressive cerebellar ataxia and anti-Sez6l2 antibodies. We highlight additional clinical signs...




Compliance with ethical standards

Conflicts of interest

The authors declare that they have no competing interests.

Supplementary material

Supplementary material 1 (MOV 12880 KB)

Supplementary material 2 (MOV 16607 KB)

Supplementary material 3 (MOV 23917 KB)


  1. 1.
    Escudero D, Guasp M, Arino H, Gaig C, Martinez-Hernandez E, Dalmau J, Graus F (2017) Antibody-associated CNS syndromes without signs of inflammation in the elderly. Neurology 89:1471–1475CrossRefGoogle Scholar
  2. 2.
    Gaig C, Graus F, Compta Y, Hogl B, Bataller L, Bruggemann N, Giordana C, Heidbreder A, Kotschet K, Lewerenz J, Macher S, Marti MJ, Montojo T, Perez-Perez J, Puertas I, Seitz C, Simabukuro M, Tellez N, Wandinger KP, Iranzo A, Ercilla G, Sabater L, Santamaria J, Dalmau J (2017) Clinical manifestations of the anti-IgLON5 disease. Neurology 88:1736–1743CrossRefGoogle Scholar
  3. 3.
    Gelpi E, Hoftberger R, Graus F, Ling H, Holton JL, Dawson T, Popovic M, Pretnar-Oblak J, Hogl B, Schmutzhard E, Poewe W, Ricken G, Santamaria J, Dalmau J, Budka H, Revesz T, Kovacs GG (2016) Neuropathological criteria of anti-IgLON5-related tauopathy. Acta Neuropathol 132:531–543CrossRefGoogle Scholar
  4. 4.
    Miyazaki T, Hashimoto K, Uda A, Sakagami H, Nakamura Y, Saito SY, Nishi M, Kume H, Tohgo A, Kaneko I, Kondo H, Fukunaga K, Kano M, Watanabe M, Takeshima H (2006) Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family. FEBS Lett 580:4057–4064CrossRefGoogle Scholar
  5. 5.
    Sabater L, Gaig C, Gelpi E, Bataller L, Lewerenz J, Torres-Vega E, Contreras A, Giometto B, Compta Y, Embid C, Vilaseca I, Iranzo A, Santamaria J, Dalmau J, Graus F (2014) A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study. Lancet Neurol 13:575–586CrossRefGoogle Scholar
  6. 6.
    Yaguchi H, Yabe I, Takahashi H, Okumura F, Takeuchi A, Horiuchi K, Kano T, Kanda A, Saito W, Matsumoto M, Nakayama KI, Hatakeyama S, Sasaki H (2014) Identification of anti-Sez6l2 antibody in a patient with cerebellar ataxia and retinopathy. J Neurol 261:224–226CrossRefGoogle Scholar
  7. 7.
    Yaguchi H, Yabe I, Takahashi H, Watanabe M, Nomura T, Kano T, Matsumoto M, Nakayama KI, Watanabe M, Hatakeyama S (2017) Sez6l2 regulates phosphorylation of ADD and neuritogenesis. Biochem Biophys Res Commun 494:234–241CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Institute of NeurogeneticsUniversity of LübeckLübeckGermany
  2. 2.Institute of Experimental ImmunologyEuroimmun AGLübeckGermany
  3. 3.Department of NeurologyUniversity of LübeckLübeckGermany
  4. 4.Institute of Clinical ChemistryUniversity Hospital of Schleswig-HolsteinLübeckGermany

Personalised recommendations