Leukodystrophy (LEP, TSEN54-related) – Schnauzer
Code: H870
Short description
Leukodystrophy is a class of neurological disorders in which the white matter of the brain degenerates, which can cause progressive signs such as a loss of coordination, tremors, limb weakness and potentially death.
General information
Leukodystrophy is a class of neurological disorders in which the white matter of the brain degenerates, which can cause progressive signs such as a loss of coordination, tremors, limb weakness and potentially death. It is also known as Leukoencephalopathy (LEP). This variant of the disease, found in the Standard Schnauzer, is caused by a recessive mutation to the tRNA splicing endonuclease subunit 54 (TSEN54) gene.
Specifications
| Breeds | |
|---|---|
| Gene | TSEN54 |
| Chromosome | 9 |
| Mutation | c.371G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | LEP |
Clinical features
Affected dogs present within the first 4 weeks after birth with symptoms such as apathy, hypermetria (overextending of the limbs while stepping), strabismus (wandering eye), altered voice, intension tremor, head tilt and circling behaviour. The disease is progressive, and euthanasia is likely to be necessary due to poor quality of life.
References
Pubmed ID: 31584937
Year published: 2019
Omia ID: 2215
Omia variant ID:
Turnaround information
- 15 working days