Leukodystrophy (CYTB-related)
Kodas: H708
Short description
Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement.
General information
Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement. The disorder is caused by a mitochondrial mutation to the cytochrome b (CYTB) gene, and is found in the Australian Cattle Dog and the Shetland Sheepdog.
Specifications
| Breeds | |
|---|---|
| Gene | CYTB |
| Chromosome | MT |
| Mutation | c.14474G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Mitochondrial |
Clinical features
Affected puppies usually begin presenting with whole-body tremors at approximately 3 to 4 weeks of age. They are initially able to walk, but progressively lose coordination over several weeks of development. Other symptoms include spastic twitches of the limbs, jaw drop, difficulty swallowing, excessive salivation, failure to grow and an inability to walk. The disease is progressive, and affected dogs are typically euthanized on humane grounds.
Additional information
The mutation in the CYTB gene follows a mitochondrial inheritance pattern. This means that the disorder is transmitted exclusively through the maternal line, as only mothers contribute mitochondria to their offspring. Consequently, all offspring of an affected female will inherit the mutation, whereas males carrying the mutation do not pass it on to their progeny.
References
Pubmed ID: 16026996
Year published: 2006
Omia ID: 2684
Omia variant ID:
Turnaround information
- 10 working days