Infantile neuronal ceroid lipofuscinosis: isolation of storage material.
We used ultracentrifugation to isolate autofluorescent storage particles from the brains of patients with infantile type of neuronal ceroid lipofuscinosis (Haltia-Santavuori). The particles differed from those of the late infantile (Jansky-Bielschowsky) and juvenile (Batten-Spielmeyer-Sjögren) types and retained the characteristic appearance--large, partly membrane-bound conglomerates of spherical globules with a uniform finely granular internal structure--despite the vigorous procedure. The sedimentation properties of the particles also differed from the two other forms, but dolichols are found in the particles of all three diseases.
D001921:Brain / Q000648:ultrastructure; D001923:Brain Chemistry; D002566:Ceroid; D005260:Female; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000378:metabolism* / Q000473:pathology; D008055:Lipids / Q000032:analysis; D008062:Lipofuscin
D002566:Ceroid; D008055:Lipids; D008062:Lipofuscin