Smits M G, Gabreëls F J, Renier W O, Joosten E M, Gabreëls-Festen A A, ter Laak H J, Pinckers A J, Hombergen G C, Notermans S L, Thijssen H O
Neuropediatrics. 1982 Aug;13(3):161-7. doi: 10.1055/s-2008-1059617.
Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.
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