Identification of auto-antibody in cerebellar ataxia

• Project/Area Number: 25893006
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Hokkaido University
• Principal Investigator: Yaguchi Hiroaki 北海道大学, 医学(系)研究科(研究院), 客員研究員 (00421975)
• Project Period (FY): 2013-08-30 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000); Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: 抗神経抗体 / 傍主要性症候群 / 小脳失調症 / Sez6l2 / 小脳失調 / 神経免疫 / 自己抗体 / 免疫介在

Outline of Final Research Achievements

The importance of central nervous system syndrome associated with neuronal surface antibodies has been increasing. We previously reported a new anti-neuronal antibody, anti-Sez6l2 antibody. Sez6l2 is highly expressed in the hippocampus and cerebellar cortex and is one of the type 1 membrane proteins. This study showed that the patient serum recognized the extracellular domain of Sez6l2 and that Sez6l2 protein bound to both ADD protein and GluR1 protein. These results indicated the molecular mechanism of Sez6l2 that modulates the function of AMPA receptors and the pathogenesis of anti-Sez6l2 antibodies in the patient through the inhibition of direct binding between Sez6l2 and GluR1.

Research Products

• [Journal Article] Identification of anti-Sez6l2 antibody in a patient with cerebellar ataxia and retinopathy (2013)
  • Author(s): Yaguchi H, Yabe I, Takahashi H, Okumura F, Takeuchi A, Horiuchi, K, Kan T, Kanda, A, Saito W, Matsumoto M, Nakayama KI, Hatakeyama S and Sasaki H
  • Journal Title: J. Neurol. Volume: 261 Issue: 1 Pages: 224-226
  • DOI: 10.1007/s00415-013-7134-5
  • Peer Reviewed
• [Presentation] 抗神経抗体抗原であるSez6l2はAMPA受容体とADDの複合体を形成しシグナル伝達を促進する (2016)
  • Author(s): 矢口 裕章
  • Organizer: 第27回日本神経免疫学会学術集会
  • Place of Presentation: 長良川国際会議場（岐阜県・岐阜市）
  • Year and Date: 2016-09-15
• [Presentation] Identification of anti-Sez6l2 antibody in a patient with cerebellar ataxia and retinopathy. (2013)
  • Author(s): 矢口 裕章
  • Organizer: 分子生物学会
  • Place of Presentation: 神戸ポートアイランド（神戸）