Neuronal Ceroid Lipofuscinosis 1 (NCL1) – Cane Corso
Code: H902
Short description
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to 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 the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant of the disease analysed in this test, known as Neuronal Ceroid Lipofuscinosis 1 (NCL1), is caused by a recessive mutation to the gene PPT1, and is found in the Cane Corso. A closely related variant of NCL1 is found in the Dachshund.
Specifications
| Breeds | |
|---|---|
| Gene | PPT1 |
| Chromosome | 15 |
| Mutation | c.124 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL1 |
Clinical features
Affected puppies begin presenting with symptoms of NCL at approximately half a year of age. Symptoms include gradual loss of vision and ataxia (loss of coordination), as well as neurological signs such as strabismus (wandering eye), absent menace response and a tilted head. The disease is severe and progressive, and euthanasia is likely to be necessary due to poor quality of life.
References
Pubmed ID: 28008682
Year published: 2017
Omia ID: 1504
Omia variant ID:
Turnaround information
- 15 working days