OMIA:000181-9541 : Neuronal Ceroid Lipofuscinosis, generic in Macaca fascicularis (crab-eating macaque) |
In other species: Mallard , dog , domestic ferret , domestic cat , horse , pig , taurine cattle , goat , sheep , peach-faced lovebird
Categories: Lysosomal storage disease , Nervous system phene
Mendelian trait/disorder: unknown
Disease-related: 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).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:000181-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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. | |
| 1984 | Jasty, V., Kowalski, R.L., Fonseca, E.H., Porter, M.C., Clemens, G.R., Bare, J.J., Hartnagel, R.E. : |
| An unusual case of generalized ceroid-lipofuscinosis in a cynomolgus monkey. Vet Pathol 21:46-50, 1984. Pubmed reference: 6538717. DOI: 10.1177/030098588402100108. |
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- Created by Frank Nicholas on 20 Aug 2013