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Background <p>Anti-Sez6L2 (seizure-related 6 homolog-like 2) antibody–associated autoimmune cerebellar ataxia is an exceptionally rare neuroimmunological disorder, with only a limited number of cases reported to date. Its clinical spectrum and optimal therapeutic strategies remain incompletely characterized.</p> Case presentation <p>We report a 77-year-old woman who developed a subacute-to-chronic progressive cerebellar ataxia accompanied by oculomotor abnormalities, a forward-leaning posture, and gait initiation failure.. Neuroimaging studies revealed no structural or neoplastic lesions sufficient to account for the neurological deterioration. Cell-based assays detected anti-Sez6L2 IgG antibodies in both serum and cerebrospinal fluid. The patient exhibited only limited and unsustained improvement following first-line immunotherapies, including corticosteroids and intravenous immunoglobulin. After confirmation of an antibody-mediated mechanism, treatment was escalated to B-cell–depleting therapy with rituximab, resulting in clinical improvement accompanied by a reduction in cerebrospinal fluid antibody titers.</p> Conclusion <p>This case represents a rare presentation of anti-Sez6L2 antibody–associated autoimmune cerebellar ataxia and provides additional clinical and immunological evidence supporting the relevance of this antibody. Furthermore, it suggests that rituximab may represent a potentially valuable therapeutic option in patients with insufficient responses to first-line immunotherapies.</p>

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Anti-Sez6L2 antibody–associated autoimmune cerebellar ataxia: a rare case with implications of rituximab therapy

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  • 发表日期：

    2026年4月18日

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  • Ya Gao,
  • Ruisheng Duan

摘要

Background

Anti-Sez6L2 (seizure-related 6 homolog-like 2) antibody–associated autoimmune cerebellar ataxia is an exceptionally rare neuroimmunological disorder, with only a limited number of cases reported to date. Its clinical spectrum and optimal therapeutic strategies remain incompletely characterized.

Case presentation

We report a 77-year-old woman who developed a subacute-to-chronic progressive cerebellar ataxia accompanied by oculomotor abnormalities, a forward-leaning posture, and gait initiation failure.. Neuroimaging studies revealed no structural or neoplastic lesions sufficient to account for the neurological deterioration. Cell-based assays detected anti-Sez6L2 IgG antibodies in both serum and cerebrospinal fluid. The patient exhibited only limited and unsustained improvement following first-line immunotherapies, including corticosteroids and intravenous immunoglobulin. After confirmation of an antibody-mediated mechanism, treatment was escalated to B-cell–depleting therapy with rituximab, resulting in clinical improvement accompanied by a reduction in cerebrospinal fluid antibody titers.

Conclusion

This case represents a rare presentation of anti-Sez6L2 antibody–associated autoimmune cerebellar ataxia and provides additional clinical and immunological evidence supporting the relevance of this antibody. Furthermore, it suggests that rituximab may represent a potentially valuable therapeutic option in patients with insufficient responses to first-line immunotherapies.