CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)

Sleep disorders are common in NCL patients, The patients have problems such as frequent awakenings, difficulties with sleep onset, nightmare s, and night terrors, The aim of the study was to examine whether the sleep disturbance in NCL can be explained on the basis of desynchronis ed circadian rhythms, Therefore we studied diurnal patterns of melaton in, cortisol, body temperature, and motor activity of 14 patients, The group consisted of 8 JNCL patients, 5 INCL children, and one boy with Jansky-Bielschowsky disease of the variant type, There were healthy a ge- and sex-matched control subjects, The blood samples for serum mela tonin and cortisol were collected every 2 hours during 24-hour periods , Body temperature was recorded continuously for a 24 hour period by a polygraph, Diurnal motor activity was measured by wrist actigraphy fo r 5 days, In most of our patients sleep was fragmented and the sleep p hase was irregular, Disturbances in the daily hormonal rhythms occurre d only in the minority of the patients and only at an advanced stage o f the disease, Although disturbances in the body temperature rhythm we re found in about half of the patients, a general failure in the circa dian regulatory system does not explain the frequent disturbances of t he sleep-wake cycle of the NCL patients. (C) 1995 Wiley-Liss, Inc.