Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812159
Varia

EEG Changes Prior to Onset of Epilepsy: A Potential Early Biomarker to Monitor Disease Progression in CLN3 Disease

Authors

  • J. Finter

    1   Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
  • M. Nickel

    1   Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
  • A. Schulz

    1   Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
 
 

    Background/Purpose: Juvenile neuronal ceroid lipofuscinosis or CLN3 disease is a pediatric neurodegenerative disorder characterized by visual loss, epilepsy, and psychomotor deterioration. No approved treatment for CLN3 is currently available. Patients may present with significant phenotypic variability, which complicates the evaluation of potential therapies. Biomarkers as surrogates to measure disease progression are needed to assess the efficacy of experimental therapies. This study evaluates EEG findings as a potential early biomarker for CLN3 disease.

    Methods: A total of 7 CLN3 patients with two annual EEG recordings obtained prior to the first onset of seizures were enrolled in this study. Their EEGs were retrospectively analyzed, and findings correlated with the patients’ respective juvenile NCL score (JNCL score) at the time. EEGs were screened for slow background activity, intermittent slowing, absence of anterior-posterior gradient, absence of Berger's sign, and epileptiform discharges. Results were statistically analyzed by rating the presence of each item as 1 point and grading the frequency of epileptiform discharges from 1 (mild) to 3 (severe).

    Results: Median patients’ age at EEG recordings was 8.5 years. All patients already suffered from visual loss, three patients had mild speech difficulties, and two patients had mild intellectual impairment. Per the inclusion criteria, no patient had an onset of seizures yet. EEGs of all patients showed abnormal findings, most commonly a lack of anterior-posterior gradient and intermittent slow theta activity. After 1 year of follow-up, EEG abnormalities significantly increased (p = 0.0008), especially slow background activity and intermittent delta activity, still without any reported seizures in the selected CLN3 cases. No correlation was found between JNCL score and EEG abnormalities.

    Conclusion: EEG changes in CLN3 disease are present already prior to the onset of seizures and can serve as a potential early biomarker to monitor disease progression.


    Die Autoren geben an, dass kein Interessenkonflikt besteht.

    Publikationsverlauf

    Artikel online veröffentlicht:
    26. September 2025

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