Neuronal Ceroid Lipofuscinosis 8 (NCL8) – Australian Shepherd Type
Kodas: H337
Short description
Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
General information
Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), occurs in the Australian Shepherd and German Shorthaired Pointer. It is caused by a recessive mutation to the Ceroid‑Lipofuscinosis, Neuronal 8 (CLN8) gene. Other breeds that carry mutations for NCL8 include the English Setter, Alpenländische Dachsbracke, and Saluki.
Specifications
| Breeds | Australian Shepherd, German Shorthaired Pointer, Miniature American Shepherd |
|---|---|
| Gene | CLN8 |
| Chromosome | 37 |
| Mutation | c.585G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL8 |
Clinical features
Affected dogs begin to present symptoms between 10 and 20 months of age, primarily impaired vision and ataxia (loss of coordination). This can result in compulsive circling movements, jaw chattering, loss of housetraining, decreased responsiveness to voice commands and agitation at noises. The disease is progressive, and euthanasia may ultimately be necessary due to poor quality of life.
References
Pubmed ID: 24953404
Year published: 2014
Omia ID: 1506
Omia variant ID:
Turnaround information
- 10 working days