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Immunotherapies for the Effective Treatment of Primary Autoimmune Cerebellar Ataxia: a Case Series

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Abstract

Primary autoimmune cerebellar ataxia (PACA) is an idiopathic sporadic cerebellar ataxia that is thought to be immune-mediated but lacks biomarkers or a known cause. Here, we report two cases of immune-mediated cerebellar ataxia that responded favorably to immunotherapy, in which tissue-based indirect immunofluorescence test for serum or cerebrospinal fluid (CSF) samples yielded positive results. Case 1 was a 78-year-old man who presented with subacute progressive gait ataxia with truncal instability and dysarthria in response to steroids. Case 2 was a 62-year-old man who presented with relapses and remissions of acute progressive cerebellar ataxia occurring 1–2 times per year. Despite a favorable response to steroid treatment, he relapsed repeatedly in the absence of long-term immunosuppression. In the case of “idiopathic” cerebellar ataxia, immune-mediated causes should be investigated, and immunotherapy may have therapeutic effects.

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Data Availability

The original contributions generated for this study are included in the article, and further inquiries can be directed to the corresponding author/s.

Abbreviations

ACA:

Autoimmune cerebellar ataxia;

PCD:

Paraneoplastic cerebellar degeneration;

PACA:

Primary autoimmune cerebellar ataxia;

TBAs:

Tissue-based assays;

CBAs:

Cell-based assays;

IVIG:

Intravenous immunoglobulin;

mRS:

Modified Rankin Scale;

18F-FDG PET/CT:

18F-fluorodeoxyglucose positron emission tomography /computed tomography

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Acknowledgements

We appreciate the patients’ consent to publish this information. We thank the State Key Laboratory of Translational Medicine and Innovative Drug Development, Ministry of Science and Technology, Jiangsu Simcere Diagnostics Co, Ltd for assistance with the autoimmune encephalitis-related test. The assistance of Dr. Wang Chunxia of Jiangsu Simcere Diagnostics in interpreting the TBA results is greatly appreciated. We thank Shanghai BioGerm Medical Technology Co., Ltd. and Vision Medicals Co., Ltd for their assistance with the sequencing test.

Funding

This research was funded by the Natural Science Foundation of Jiangsu Province for Distinguished Young Scholars (BK20200192), the Natural Science Research of Jiangsu Higher Education Institutions of China (20KJD320007), and the Suzhou Municipal Science and Technology Bureau (KJXW2019012). The role of the funding body was in the collection and interpretation of data and drafted the manuscript.

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Author notes

  1. Jiao Li and Bo Deng contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology and Clinical Research Center of Neurological Disease, The Second Affiliated Hospital of Soochow University, Suzhou, 215004, China

    Jiao Li, Wenli Song, Keru Li, Guofu Shao, Chunfeng Liu & Yanlin Zhang

  2. Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China

    Bo Deng, Xiaoni Liu & Xiangjun Chen

  3. National Center for Neurological Disorders, Shanghai, China

    Bo Deng, Xiaoni Liu & Xiangjun Chen

  4. Department of Infectious Diseases, National Medical Center for Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, Huashan Hospital, Fudan University, Shanghai, 200040, China

    Jingwen Ai, Haocheng Zhang, Yi Zhang, Ke Lin & Wenhong Zhang

  5. Human Phenome Institute, Fudan University, Shanghai, China

    Xiangjun Chen

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  1. Jiao Li
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Contributions

JL and BD assessed the patient, conceived the research concept, and authored the initial manuscript. Participating in the clinical management were KL, WS, JA, XL, HZ, YZ, and WZ. The paper was edited by GS and CL for its intellectual substance. The final paper was reviewed and approved by XC and YZ. All authors participated to and approved the final draft of the article. JL and BD contributed equally as co-first authors to this study. XC and YZ contributed equally as co-correspondence authors to this work.

Corresponding authors

Correspondence to Xiangjun Chen or Yanlin Zhang.

Ethics declarations

Ethical Approval and Consent to Participate

The clinical trial was approved by the ethics committee of The Second Affiliated Hospital of Soochow University (JD-LK-2021–079-02) and the ethical committee of Huashan Hospital Affiliated to Fudan University (KY 2021–451) and was registered in ClinicalTrial.gov of Optimal Encephalitis/Meningitis Roadmap Via Precise Diagnosis and Treatment (IMPROVE, NCT04946682).

Consent for Publication

Written informed consent was obtained from the individual for the publication of any potentially identifiable images or data included in this article.

Competing interests

The authors declare no competing interests.

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Li, J., Deng, B., Song, W. et al. Immunotherapies for the Effective Treatment of Primary Autoimmune Cerebellar Ataxia: a Case Series. Cerebellum 22, 1216–1222 (2023). https://doi.org/10.1007/s12311-022-01496-z

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