Neuronal Ceroid Lipofuscinosis 1 (NCL1) – Dachshund
Kodas: H494
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. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 1 (NCL1 or CLN1), is caused by a recessive mutation to the gene PPT1, and is found in the Dachshund. Another variant of CLN1 has also been found in the Cane Corso.
Specifications
| Breeds | |
|---|---|
| Gene | PPT1 |
| Chromosome | 15 |
| Mutation | c.736-737insC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL1 |
Clinical features
Affected dogs experience progressing neurological symptoms within the first year of life. These symptoms can include nervousness, increased sensitivity to noises, loss of coordination, circling behavior and loss of vision progressing to full blindness. Euthanasia on humane grounds is often desirable due to poor quality of life.
References
Pubmed ID: 20494602
Year published: 2010
Omia ID: 1504
Omia variant ID:
Turnaround information
- 10 working days