Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis

To describe the findings in 59 EEGs from six patients from three generations in a family with autosomal dominant adult neuronal ceroid lipofuscinosis (Parry disease), autopsy proven, with a follow up of 9-21 years.

Descriptive, visual EEG analysis.

In these patients with epilepsy, myoclonus, dementia and Parkinsonism, EEGs were all severely abnormal, with generalized or bilateral independent periodic epileptiform discharges as the most common pattern. In a few EEGs periodic discharges were seen. No alpha rhythm was present. No paroxysmal response to photic stimulation was seen. Intraindividual EEG changes in the course of the disease were modest, despite severe clinical disease progression. No cortical component linked to myoclonus could be found with a backaveraging technique.

EEG in autosomal dominant neuronal ceroid lipofuscinosis is dominated by generalised periodic epileptiform discharges (GPEDs, or GPD+).

GPD/GPEDs in adults with myoclonus, Parkinsonism, dementia or epilepsy should raise the possibility of adult neuronal ceroid lipofuscinosis, especially with familial occurrence.