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- Publisher
- Wiley
- Copyright
- Copyright © 1987 American Neurological Association
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- DOI
- 10.1002/ana.410210208
- pmid
- 3827224
- Publisher site
- See Article on Publisher Site
Abstract
The brain of an 18‐year‐old patient with Pelizaeus‐Merzbacher disease was examined by standard neuropathological and biochemical methods and by immunocytochemical and immunochemical techniques. Analysis revealed a lack of myelin‐specific lipids, but showed a residual immunoreactivity for myelin basic protein, myelin‐associated glycoprotein, and 2,3‐cyclic nucleotide‐3‐phosphodiesterase. Examination by immunocytochemistry and enzyme‐linked immunosorbent assay showed an absence of proteolipid apoprotein (lipophilin). The peripheral nervous system was normal. Pelizaeus‐Merzbacher disease in humans shares many neuropathological and biochemical features with X‐linked mutations in animals, e.g., the jimpy mouse and myelin‐deficient rat. The specificity of this protein deficiency in Pelizaeus‐Merzbacher disease gains additional support from the recent mapping of the lipophilin gene to the human X chromosome.
Journal
Annals of Neurology – Wiley
Published: Feb 1, 1987