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Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant
Jenae Vancura1, Abhik K Banerjee2, Natalie K Boyd2
1Keck School of Medicine of the University of Southern California, Los Angeles.
Neurology. Genetics
|January 21, 2025
Summary
This case study highlights recurrent cerebellar ataxia in a child, linked to an ATP2B2 gene variant. Intravenous immunoglobulin (IVIg) therapy showed significant improvement, suggesting a potential treatment avenue.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Cerebellar ataxia can be postinfectious and recurrent, presenting a diagnostic challenge.
- Genetic factors can predispose individuals to neurological disorders like ataxia.
Purpose of the Study:
- To report a case of recurrent postinfectious cerebellar ataxia.
- To investigate the genetic basis of the ataxia in a pediatric patient.
- To evaluate the efficacy of immunotherapy.
Main Methods:
- A case study of an 11-year-old girl with recurrent cerebellar ataxia.
- Clinical presentation during influenza A infection, including cerebrospinal fluid (CSF) analysis.
- Genetic testing for gene variants, specifically in ATP2B2.
- Treatment with intravenous immunoglobulin (IVIg).
Main Results:
- The patient experienced recurrent acute cerebellar ataxia, dysarthria, and gait instability.
- A likely pathogenic de novo ATP2B2 gene variant (c.3028G>A, p.(Glu1010Lys)) was identified.
- The patient showed dramatic clinical improvement after IVIg administration.
Conclusions:
- Recurrent cerebellar ataxia is rare and may warrant genetic testing.
- Pathogenic ATP2B2 gene variants might be associated with cerebellar ataxia.
- IVIg immunotherapy may improve clinical outcomes in patients with ATP2B2-related ataxia.
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