Neuronal Ceroid Lipofuscinosis 7 (NCL7)
Kodas: H978
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, known as Neuronal Ceroid Lipofuscinosis 7 (NCL 7) is caused by a recessive mutation to the gene MFSD8, and occurs in the Chinese Crested Dog and Chihuahua.
Specifications
| Breeds | |
|---|---|
| Gene | MFSD8 |
| Chromosome | 19 |
| Mutation | c.843delT |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL7 |
Clinical features
Affected dogs show neurological symptoms that can include compulsive licking, disorientation, blindness, anxiety, excessive sleep and hyper-responsiveness to stimuli. These symptoms tend to present within the first year of life. The disease is progressive, and euthanasia due to poor quality of life is likely necessary.
References
Pubmed ID: 25551667
Year published: 2015
Omia ID: 1962
Omia variant ID:
Turnaround information
- 10 working days