[Neurophysiological studies on group A xeroderma pigmentosum in early childhood].
Neurophysiological studies were performed on 8 patients with group A xeroderma pigmentosum during early childhood. EEG, ABR and NCV were normal during this period. In contrast, various sleep parameters detected by polysomnography showed abnormal findings even in the neurologically normal patient. Decreased % sleep REM was seen in a case, and decreased frequency of REMs were seen in another. Body movements were extremely high or low in frequency in 3 cases in whole night sleep. The distribution of body movements were abnormal; in control subjects, the frequency was higher in SREM and stage 1 than in slow wave sleep; in 7 cases, it was higher in slow wave sleep than in stage 1 or 2, or body movements were extremely frequent. Neurological examination revealed soft signs in various systems in early childhood. All cases except one showed hypotonia. Many cases were slow in learning to walk and the gait was unstable. Speech delay and decreased deep tendon reflexes, especially of patella, were seen in most cases. Since the neural deficits in XP may be related to the DNA repair defect, these findings indicate the possibility that some endogenous compounds distributing all over the nervous system might produce the DNA damages. Because the body movements during sleep are controlled by the nigrostriatal dopaminergic system, present data indicate that the basal ganglia might be one of the earliest degenerative systems in the CNS. Recently, some studies have suggested the possibility that oxygen radical mechanisms might be involved in the development of the dopamine neurodegenerative process in Parkinson's disease.(ABSTRACT TRUNCATED AT 250 WORDS)
Iwakawa
Y
Y
Department of Pediatrics, Tokyo Medical and Dental University.
Shimohira
M
M
Kondo
S
S
Sato
Y
Y
D000367:Age Factors; D002675:Child, Preschool; D004249:DNA Damage; D004298:Dopamine / Q000378:metabolism; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D005609:Free Radicals; D006801:Humans; D007223:Infant; D008297:Male; D009431:Neural Conduction; D009460:Neurologic Examination / Q000379:methods*; D009482:Neurophysiology; D012895:Sleep, REM / Q000502:physiology; D013481:Superoxides; D014983:Xeroderma Pigmentosum / Q000503:physiopathology*
D005609:Free Radicals; D013481:Superoxides; D004298:Dopamine