OMIA 000181-9823 : Neuronal Ceroid Lipofuscinosis, generic in Sus scrofa
Category: Lysosomal storage disease
Links to MONDO diseases: No links.
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. The disease has been described in humans (at least seven different variants), mice, dogs (English Setter, Border collie, Golden retriever, Australian cattle dog, Saluki, Chihuahua, Tibetian terier, Dachshund, and Miniature Schnauzer), Siamese cats, cattle (Beefmaster, Devon), Nubian goats, and sheep (South Hampshire, Rambouillet, Swedish Landrace, Merino) [Imke Tammen 21 Jan 2002].
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.|
|2006||Cesta, MF., Mozzachio, K., Little, PB., Olby, NJ., Sills, RC., Brown, TT. :|
|Neuronal ceroid lipofuscinosis in a Vietnamese pot-bellied pig (Sus scrofa). Vet Pathol 43:556-60, 2006. Pubmed reference: 16847000. DOI: 10.1354/vp.43-4-556.|
- Created by Frank Nicholas on 01 Dec 2009