Clinical study of anti-IgLON5 autoantibody related disorders

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K15445
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: Gifu University
• Principal Investigator: Kimura Akio 岐阜大学, 大学院医学系研究科, 准教授 (00362161)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 抗神経抗体 / 自己免疫性脳炎 / IgLON5 / 大脳皮質基底核症候群 / タウオパチー

Outline of Final Research Achievements

Anti-IgLON5 disease is a novel neurological disorder characterized by disturbed sleep, bulbar dysfunction, movement disorders, oculomotor abnormalities, and cognitive impairment. Neuropathological findings have also revealed tauopathy. In this study, we examined anti-IgLON5 antibodies in serum samples of 74 patients with progressive supranuclear palsy, 60 patients with Parkinson disease, 49 patients with multiple system atrophy, 48 patients with corticobasal syndrome (CBS), 15 patients with front-temporal dementia, and 12 patients with motor neuron disease. As a result, we firstly identified a patient with anti-IgLON5 disease presenting with CBS that meets the diagnostic criteria of probable corticobasal degeneration. This patient responded to immunotherapy, confirmed both clinically and radioisotope assessments. The present case highlights the importance of testing for anti-IgLON5 antibodies in patients with CBS who can potentially benefit from immunotherapy.

Free Research Field

臨床神経学

Academic Significance and Societal Importance of the Research Achievements

本研究成果として，抗IgLON5抗体関連疾患の臨床スペクトラムは従来の報告よりも広いことが明らかとなり，現在，①睡眠障害型，②球麻痺症候群，③PSP様症候群，④認知機能障害型, ⑤末梢神経障害型，⑥小脳症候群，⑦CBS，⑧球麻痺型運動ニューロン病mimicsの8病型が存在すると考えられる．免疫療法が有効であることから，上記の臨床像を呈する患者では，抗IgLON5抗体の検索を念頭に置く必要がある．