OMIA:000181-9669 : Neuronal Ceroid Lipofuscinosis, generic in Mustela putorius furo

In other species: domestic cat , cattle , dog , horse , sheep , goat , pig , peach-faced lovebird , Mallard , crab-eating macaque

Categories: 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.
2011 Nibe, K., Miwa, Y., Matsunaga, S., Chambers, J.K., Uetsuka, K., Nakayama, H., Uchida, K. :
Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a ferret (Mustela putorius furo). Veterinary Pathology 48:1185-1189, 2011.
1999 France, M., Geraghty, F., Taylor, R. :
Ceroid lipofuscinosis in ferrets. Annual Conference Australian Society Veterinary Pathology :p. 50, 1999.

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  • Created by Frank Nicholas on 20 Aug 2013