Clinical characteristics and anti-ZSCAN1 antibody titer analysis in a nationwide survey of ROHHAD (-NET) syndrome
Authors' conclusion
Additionally, anti-ZSCAN1 antibody titers reflect the association of NCTs and may serve as a potential marker for the efficacy of tumor therapy.
Study context
- Population
- Patients diagnosed clinically with ROHHAD (-NET) syndrome in Japan
- Outcome
- Clinical features at onset or first visit
Methodological detailsnationwide survey
- Nationwide survey
Main finding
As reported in the abstract
Obesity
72.7%
Autonomic dysregulation
18.2%
Central hypoventilation
36.2%
Observational data: associations, not effects.
Further findings
Anti-ZSCAN1/anti-Nax antibody positivity (ELISA)
- Antibody positivity in 30 cases
- 70%
Anti-ZSCAN1 antibody titer and neural crest tumors (NCTs)
- Anti-ZSCAN1 titer significantly higher with NCTs than without tumors
- In a patient with NCT, titer tended to decrease after tumor resection or immunosuppressive therapy
Original publication
Clinical characteristics and anti-ZSCAN1 antibody titer analysis in a nationwide survey of ROHHAD (-NET) syndrome. J Clin Endocrinol Metab. Published 11 March 2026. doi:10.
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