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Specific EEG markers in POLG1 Alpers' syndrome
Anouk van Westrhenen1, Elisabeth A Cats2, Bart van den Munckhof3
1Brain Center Rudolf Magnus, University Medical Center Utrecht, Department of Neurology, PO Box 85500, 3508 GA Utrecht, The Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN): Heemstede, PO Box 540, 2130 AM Hoofddorp, The Netherlands.
Summary
Rhythmic high-amplitude delta with superimposed (poly)spikes (RHADS) on EEG are a reliable early diagnostic marker for Alpers-Huttenlocher syndrome (AHS). This specific EEG pattern aids in the early recognition and diagnosis of AHS.
Area of Science:
- Neurology
- Neurophysiology
- Pediatric Neurology
Background:
- Alpers-Huttenlocher syndrome (AHS) is a rare, progressive neurodegenerative disorder.
- Early diagnosis of AHS is crucial for management but can be challenging.
- Electroencephalography (EEG) plays a role in monitoring neurological conditions.
Purpose of the Study:
- To determine if rhythmic high-amplitude delta with superimposed (poly)spikes (RHADS) on EEG can enable early and reliable diagnosis of AHS.
- To assess the contribution of RHADS to the recognition of AHS.
Main Methods:
- Retrospective analysis of EEGs from nine DNA-proven AHS patients and fifty age-matched controls with status epilepticus.
- Expert evaluation for the presence of RHADS, clinical signs, and high-frequency ripples.
- Blinded panel testing to assess the reproducibility of RHADS identification.
Main Results:
- RHADS were identified in all AHS patients' EEGs and absent in the control group.
- RHADS were present in 67% of AHS patients at their first status epilepticus, sometimes appearing weeks later.
- Independent panel identification of RHADS achieved 87.5% sensitivity and 87.5% specificity.
Conclusions:
- RHADS represent a highly specific EEG phenomenon for diagnosing AHS.
- RHADS can be reliably recognized, aiding in early disease detection.
- The presence of ripples on RHADS suggests an epileptic origin, supporting their diagnostic value.