OMIA:000181-60468 : Neuronal Ceroid Lipofuscinosis, generic in Agapornis roseicollis (peach-faced lovebird)

In other species: Mallard , crab-eating macaque , dog , domestic ferret , domestic cat , horse , pig , taurine cattle , goat , sheep

Categories: Lysosomal storage disease , Nervous system phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: The neuronal ceroid lipofuscinoses (NCLs) are a heterogenous group of inherited neurodegenerative diseases characterised by brain and retinal atrophy and the accumulation of autofluorescent lipopigment in neurons and many other cells within the body. Clinical features of NCL are abnormal behavior, dementia, loss of vision, motor disturbances and seizures, and premature death. See also gene specific entries including OMIA:001504 (PPT1-related), OMIA:001472 (TPP1-related), OMIA:002432 (CLN3-related), OMIA:001482 (CLN5-related), OMIA:001443 (CLN6-related), OMIA:001962 (CLN7/MFSD8-related), OMIA:001506 (CLN8-related), OMIA:001505 (CTSD10-related) and OMIA:001552 (ATP13A2-related).

Species-specific symbol: NCL

Species-specific description: Neurological signs and histopathological findings were typical of NCL, but concurrent finding of a small nodular tumour in the bird’s cranial nerves may have caused the neurological signs. Several related birds were observed to show similar clinical signs, but unfortunately they were not available for post mortem. (contributed by Izmira Ismail on 13 Feb 2009)

Clinical features: The lovebird was presented with a history of incoordination, loss of balance and intermittent convulsive seizures. The bird died after a convulsion. (contributed by Izmira Ismail on 13 Feb 2009)

Pathology: At necropsy, no gross lesions were observed except for a small nodular tumor in the cranial nerves located closely to the brain stem. The tumor was identified as a Schwann cell tumour. Microscopically, haematoxylin and eosin (H&E) stained storage bodies were found in the cytoplasm of the bird’s brain and spinal cord nerve cells. The storage bodies were acid fast, stained positive with Periodic acid Schiff (PAS) and emitted fluorescence under ultraviolet light. Many of the affected neurons were found to be degenerated. (contributed by Izmira Ismail on 13 Feb 2009)

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000181-60468: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2013 Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009.
1988 Reece, R.L., MacWhirter, P. :
Neuronal ceroid lipofuscinosis in a lovebird. Vet Rec 122:187, 1988. Pubmed reference: 3358287.

Edit History

  • Created by Frank Nicholas on 01 Jul 2012
  • Changed by Frank Nicholas on 01 Jul 2012