Sleep alterations in juvenile neuronal ceroid-lipofuscinosis

In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are comm on. The purpose of this study was to investigate the sleep structure of 28 patients with JNCL compared with healthy controls subjects and to clarify t he pathophysiology underlying the sleep disturbances in these patients. Eac h of 28 patients with JNCL (age range = 6-27 years), with or without sleep complaints, underwent one night of polysomnography, Electroencephalographic , electro-oculographic, electromyographic, and electrocardiographic finding s were recorded. Sleep was scored and analyzed visually. The sleep paramete rs of the patients were compared with those of healthy control subjects. In most of the patients, the total sleep time, sleep efficiency, and percenta ges of rapid eye movement (REM) and non-REM (NREM) stage 2 sleep were signi ficantly decreased, and the percentages of NREM stage 1 and slow-wave sleep and the number of nocturnal awakenings significantly increased. The percen tage of NREM stage 1 and the number of awakenings increased with age and cl inical stage. Paroxysmal epileptiform activity during light sleep (NREM sta ges 1-2) and high-amplitude delta-wave activity with intermingled sharp wav es during slow-wave sleep were characteristic of the recordings. The presen t study revealed that in patients with JNCL, sleep is consistently altered. (C) 2000 by Elsevier Science Inc. All rights reserved.