Journal of Inherited Metabolic Disease

, Volume 16, Issue 2, pp 280–283 | Cite as

Ceroid, lipofuscin and the ceroid-lipofuscinoses (Batten Disease)

  • R. D. Jolly
  • R. R. Dalefield
  • D. N. Palmer
NCL Symposium — Pathogenetic Mechanisms


The similar histochemical, fluorescent and ultrastructural appearance of some lipofuscins and the pigment of Batten disease imply some underlying common chemical feature. The similar chloroform—methanol solubility of the protein subunit c in Batten disease and the specific proteins accumulated in thyroid lipofuscin imply that disordered or delayed catabolism of hydrophobic protein may be that common feature.


Public Health Methanol Internal Medicine Chloroform Chemical Feature 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Fearnley IM, Walker JE, Martinus RD, Jolly RD, Kirkland KB, Palmer DN (1990) The sequence of the major protein stored in ovine ceroid-lipofuscinosis is identical to that of the DCCD-reactive proteolipid mitochondrial ATP synthase.Biochem J 268: 751–758.Google Scholar
  2. Goebel HH, Braak H, Seidel D, Doshi R, Marsden CD, Gullota F (1982) Morphological studies on adult neuronal ceroid-lipofuscinosis.Clin Neuropathol 1: 151–162.Google Scholar
  3. Graydon RJ, Jolly RD (1984) Ceroid-lipofuscinosis (Batten disease): Sequential electrophysiologic and pathologic changes in the ovine model.Invest Ophthalmol Vis Sci 25: 294–301.Google Scholar
  4. Jolly RD, Dalefield RR (1990) Lipopigments in veterinary pathology. In Porta EA, ed.Lipofuscin and Ceroid Pigments. New York: Plenum Press, 157–167.Google Scholar
  5. Jolly RD, Shimada A, Döpfmer I, Slack PM, Birtles MJ, Palmer DN (1989) Ceroidlipofuscinosis: Pathogenesis and sequential neuropathological changes in the ovine model.Neuropathol Appl Neurobiol 15: 371–383.Google Scholar
  6. Jolly RD, Martinus RD, Palmer DN (1992) Sheep and other animals with ceroid-lipofuscinosis: Their relevance to Batten's disease.Am J Med Genet 42: 85–94.Google Scholar
  7. Martinus RD, Harper PAW, Jolly RD et al (1991) Bovine ceroid-lipofuscinosis (Batten's disease): the major component stored is the DCCD-reactive proteolipid, subunitc, of mitochondrial ATP synthase.Vet Res Commun 15: 85–94.Google Scholar
  8. Mayhew IG, Jolly RD, Pickett BT, Slack PM (1985) Ceroid-lipofuscinosis (Batten's disease): Pathogenesis of blindness in the ovine model.Neuropathol Appl Neurobiol 11: 273–290.Google Scholar
  9. Palmer DN, Martinus RD, Cooper SM, Midwinter GG, Reid JC, Jolly RD (1989) Ovine ceroid-lipofuscinosis: The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same NH2 terminal sequence.J Biol Chem 264: 5736–5740.Google Scholar
  10. Palmer DN, Fearnley IM, Medd SM et al (1990) Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroidlipofuscinoses. In Porta EA, ed.Lipofuscin and Ceroid Pigments. New York: Plenum Press, 211–223.Google Scholar
  11. Palmer DN, Fearnley IM, Walker JE et al (1992) Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten's disease).Am J Med Genet 42: 561–567.Google Scholar
  12. Palmer DN, Bayliss SL, Clifton PA, Westlake VJ (1993) Storage bodies in the ceroidlipofuscinoses (Batten disease): low molecular-weight components, unusual amino acids and reconstruction of fluorescent bodies from non fluorescent components.J Inher Metab Dis 16: 292–295.Google Scholar
  13. Zeman W (1974) Studies in the neuronal ceroid-lipofuscinoses.J Neuropathol Exp Neurol 33: 1–12.Google Scholar
  14. Zeman W, Dyken P (1969) Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amauratic family idiocy.Pediatrics 44: 570–583.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1993

Authors and Affiliations

  • R. D. Jolly
    • 1
  • R. R. Dalefield
    • 1
  • D. N. Palmer
    • 1
  1. 1.Department of Veterinary Pathology and Public HealthMassey UniversityPalmerston NorthNew Zealand

Personalised recommendations