Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation.
In a patient with connatal Pelizaeus-Merzbacher disease with the same mutation in the proteolipid protein gene as in jimpy(msd) mice the immunohistochemical study of the brain demonstrated deficiencies of myelin and proteolipid protein despite good expression of myelin basic protein. The mechanism of myelination is partly disturbed by the mutation; therefore jimpy(msd) mice can be used as a suitable model for further studies in connatal Pelizaeus-Merzbacher disease.
D000818:Animals; D001921:Brain / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology*; D004195:Disease Models, Animal; D017809:Fatal Outcome; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D051379:Mice; D008816:Mice, Jimpy / Q000235:genetics; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D017354:Point Mutation