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H870

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.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Informations générales

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. This variant of the disease, found in the Standard Schnauzer, is caused by a recessive mutation to the gene TSEN54.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 31584937

Omia ID: 2215

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