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Identification of Intact Dolichol‐linked Oligosaccharides in the Brains of Patients with Ceroid‐Lipofuscinosis (Batten's Disease)
Author(s) -
Hall N. A.,
Patrick A. D.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf03335428
Subject(s) - neuronal ceroid lipofuscinosis , dolichol , batten disease , disease , identification (biology) , lipofuscin , metabolic disease , medicine , human genetics , biology , biochemistry , biosynthesis , gene , botany
Ceroid-lipofuscinosis (CL) (Batten’s disease) is an inherited neurodegenerative disorder characterized by the accumulation of tertiary lysosomes containing a storage material. The underlying primary biochemical abnormality has yet to be discovered. However, very marked increases in phosphorylated dolichol (P-dolichol) levels have been found in brain from all four forms of the human disease (Hall and Patrick, 1985; Pullarkat, 1987; Hall and Patrick, 1987; Wolfe et al., 1988), and in a canine form of CL (Keller et al., 1984). We have also found that P-dolichol is highly concentrated in purified storage bodies from an ovine form of CL (unpublished observations).