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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.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.371G>A |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | LEP |
Información específica de la prueba
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.
Características clínicas
Los perros afectados se presentan dentro de las primeras 4 semanas después del nacimiento con síntomas como apatía, hipermetría (extensión excesiva de las extremidades al pisar), estrabismo (ojo errante), voz alterada, temblor de intensión, inclinación de la cabeza y comportamiento circular. La enfermedad es progresiva y es probable que la eutanasia sea necesaria debido a la mala calidad de vida.
Información adicional
Referencias
Pubmed ID: 31584937
Year published: 2019
Omia ID: 2215
Omia variant ID: 1130