Neuronal Ceroid Lipofuscinosis 12 (NCL12) – Australian Cattle Dog
Code: H987
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. This variant, occurring in the Australian Cattle Dog, is known as Neuronal Ceroid Lipofuscinosis 12 (NCL12), and is caused by a recessive mutation to the gene ATP13A2. A related variant also occurs in the Tibetan Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | ATP13A2 |
| Chromosome | 2 |
| Mutation | c.1118C>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL12 |
Clinical features
Affected dogs present with symptoms at approximately 6 years of age. Signs of NCL 12 include anxiety, impaired ability to recognize and respond to previously learned commands, increased sensitivity to loud or unexpected sounds, sleep disturbances, inappropriate or persistent vocalization, impaired ability to navigate stairs and to jump up or down from furniture, trembling, seizures, stiffness or weakness, loss of coordination, and ability to see in both bright and dim light. The disease is progressive in nature, and euthanasia due to poor quality of life is likely to be necessary within several years of onset.
References
Pubmed ID: 30956123
Year published: 2019
Omia ID: 1552
Omia variant ID:
Turnaround information
- 15 working days