OMIA 000181-9925 : Neuronal Ceroid Lipofuscinosis, generic in Capra hircus
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].
Species-specific name: neuronal ceroid lipofuscinosis
Species-specific symbol: NCL
Species-specific description: There is only 1 publication of NCL in goats, reporting the disease in 2 related female Nubian goats (Fiske and Storts 1988). In both cases, clinical signs and pathology findings were typical for NCL, although the storage material was not characterised. Preliminary pedigree analysis indicated an autosomal recessive mode of inheritance. There is no genetic assignment for NCL in goats.
Clinical features: The goats developed clinical signs at 18 and 10 months of age. Both showed similar progressive neurological signs of ataxia and paresis, and were euthanized at 2 and 4 years of age, respectively.
Pathology: No gross abnormality was reported in the pathology samples. Similar microscopic lesions were found in both goats; with the brain and spinal cord neurons containing storage bodies that were eosinophilic in nature, positive for Periodic acid Schiff (PAS) and acid fast techniques. The storage bodies were autofluorescent under ultraviolet light. Ultrastructurally, the storage bodies within neurons were described to be "spherical, concentrically-laminated membranous bodies, with some having whorled fingerprint pattern" (Fiske and Storts, 1988).
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||Fiske, RA., Storts, RW. :|
|Neuronal ceroid-lipofuscinosis in Nubian goats. Vet Pathol 25:171-3, 1988. Pubmed reference: 3363795.|
- Created by Izmira Ismail on 13 Feb 2009
- Changed by Frank Nicholas on 20 Aug 2013