Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan

• Published in: Epilepsy & behavior 2019-05, Vol.94, p.59-64
• Main Authors: Arntsen, Vibeke, Strandheim, John, Helland, Ingrid B., Sand, Trond, Brodtkorb, Eylert
• Format: Article
• Language: English
• Subjects: Cardiac conduction abnormalities; CLN3 disease; EEG; Epilepsy; Juvenile neuronal ceroid lipofuscinosis; Paroxysmal sympathetic hyperactivity
• ISSN: 1525-5050; 1525-5069
• DOI: 10.1016/j.yebeh.2019.02.020

Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is the most common neurodegenerative disorder in childhood with survival until young adult age. Visual loss is followed by epilepsy, cognitive, neuropsychiatric, and motor symptoms. We have studied the evolution of electroencephalographic (EEG) and seizure characteristics. Twenty-four patients were recruited via the Norwegian CLN3 disease parent association. Parents were interviewed. Medical records and EEG reports/recordings were collected. Electroencephalographic elements were classified according to Standardized computer-based organized reporting of EEG (SCORE). The evolution of EEG features along with seizure types was assessed by testing the difference in proportions with standardized normal deviate comparing findings below and above 15 years of age. Mean age at study or death (n = 12) was 21.2 (10–39) years. Twenty-two patients had experienced seizures; the first was usually bilateral tonic–clonic (TC). Later, focal motor seizures frequently occurred, often with increasing multifocal and polymorphic features. Paroxysmal nonepileptic motor and autonomous symptoms were also suspected in several patients. Distinct myoclonic seizures were uncommon. In four patients, we identified episodes of bradycardia/sinus arrest. Electroencephalography showed progressive slowing of the background activity (p = 0.029). Focal epileptiform discharges were rare and mainly seen at age