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Clinical Spectrum of SEZ6L2 Autoimmunity: A Case Report and Systematic Review
Yoji Hoshina1,2, Goh Kobayashi3, Haatem Reda4
1Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. yojihoshina0106@gmail.com.
Cerebellum (London, England)
|April 10, 2026
Summary
SEZ6L2 autoimmunity is a rare neurological disorder causing subacute cerebellar ataxia, often with cognitive and parkinsonian symptoms. Early immunotherapy can lead to partial improvement in this condition.
Area of Science:
- Neurology
- Immunology
- Neuroimmunology
Background:
- SEZ6L2 autoimmunity is a rare neurological condition initially associated with cerebellar ataxia and retinopathy.
- Subsequent reports indicate an expanded phenotype, emphasizing the need for timely diagnosis due to immunotherapy responsiveness.
Conclusions:
- SEZ6L2 autoimmunity is a rare, immunotherapy-responsive cause of subacute cerebellar ataxia, frequently accompanied by parkinsonism and cognitive deficits.
- The clinical presentation can be broader than initially recognized, necessitating awareness for prompt diagnosis and management.
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