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Cerebellar ataxia and myeloradiculopathy associated with AP3B2 antibody: a case report and literature review

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Abstract

Background

AP3B2 is one of the subunits of vesicle coat protein AP3 and is specifically expressed in central nervous system neurons. AP3B2 antibody has been reported in patients with autoimmune cerebellar ataxia and various extracerebellar symptoms. However, there have been few reports on its clinical features and treatment response.

Methods

We report a 47-year-old man with AP3B2 antibody who presented with insidious-onset paresthesia and gait disturbance. His serum and cerebrospinal fluid (CSF) showed reactivity with the cytoplasm of Purkinje cells and granular layer synapses comparable to the reported specific pattern of anti-AP3B2 IgG, and this was confirmed by a cell-based assay. His symptoms improved after the administration of intravenous immunoglobulin, and oral prednisone and mycophenolate mofetil. Extensive examination and long-term follow-up showed no evidence of malignancy. A literature review was included to emphasize the neurological syndrome associated with this rare autoantibody.

Results

Eleven cases with AP3B2 antibody, including our patient, were identified. The diversity of symptoms, including cerebellar and sensory ataxia, paresthesia, and weakness, was in line with the extensive binding of AP3B2 antibody to the spinal cord gray matter, dorsal root ganglia, cerebellar cortex, and nucleus. In the CSF, half of patients had elevated white blood cell counts, increased protein concentrations, or CSF-specific oligoclonal bands. All previous cases had subacute onsets and no improvement was noted after immunotherapy.

Conclusion

Our case indicated that disorders associated with AP3B2 antibody can also start insidiously. Immunotherapy is warranted given the possibility of clinical improvement.

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Author information

Author notes

  1. Liu Mange and Ren Haitao contributed equally to this study.

Authors and Affiliations

  1. Department of Neurology, Peking Union Medical College Hospital, Beijing and Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China

    Liu Mange, Ren Haitao, Zhou Lixin, Fan Siyuan & Guan Hongzhi

  2. CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, 16 Lincui Road, Chaoyang, Beijing, 100101, China

    Wang Jing

  3. University of Chinese Academy of Sciences, 19 A Yuquan Rd, Shijingshan, Beijing, 100049, China

    Wang Jing

Authors
  1. Liu Mange
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  2. Ren Haitao
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  3. Zhou Lixin
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  4. Fan Siyuan
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  5. Wang Jing
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Corresponding author

Correspondence to Guan Hongzhi.

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The author declares that there is no conflict of interest.

Ethical approval

This study was approved by the Ethics Committee of Peking Union Medical College Hospital (JS-891).

Informed consent

All included patients or their deputies provided written informed consent.

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Mange, L., Haitao, R., Lixin, Z. et al. Cerebellar ataxia and myeloradiculopathy associated with AP3B2 antibody: a case report and literature review. J Neurol 268, 4163–4169 (2021). https://doi.org/10.1007/s00415-021-10496-8

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  • DOI: https://doi.org/10.1007/s00415-021-10496-8

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