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Dog hereditary diseases

DSD156
Leukoencephalomyelopathy
LEMPR
10
Dogs
Hereditary diseases
"Leukoencephalomyelopathy is a neurodegenerative disorder with characteristics similar to Leonberger polyneuropathy, including progressive gait disorders and lack of coordination, as well as abnormal limb movements. This is caused by pathological changes in the white matter of the central nervous system. Due to the steadily decreasing mobility, the quality of life for both dogs and owners is deteriorating. In Rottweilers and Great Danes, the disease is associated with the c.345_346insC mutation, insertion (insertion) of one nucleotide in the NAPEPLD gene. The NAPEPLD gene encodes the endocannabinoid system protein of the same name, which plays an important role in the regulation of myelin. This component of the nervous system is a shell of nerve fibers, thanks to which an optimal signal transmission rate is provided. Pathologies affecting the organization of the myelin sheath cause, first of all, motor disorders. Also, the endocannabioid system has a neuroprotective function. Presumably, this mutation has incomplete penetrance – about 1% of dogs with a mutation in both copies of the gene were clinically healthy. However, the symptoms of the disease are similar to other neurological diseases that are not hereditary. Thus, genetic testing is necessary for an adequate differential diagnosis of the disease. The nature of the inheritance of the disease is autosomal recessive. The disease develops only if both copies of the gene contain a mutation. Symptoms: The disease debuts at the age of 1 to 4 years. There are symptoms such as gait disorders - dragging of paws, flexion of fingers, coordination disorders, generalized ataxia and tetraparesis. Structural changes in the white matter of the spinal cord in the cervical and thoracic regions, the brain are visualized on MRI. The above-mentioned symptoms are not accompanied by pain syndrome. There is no treatment for the disease at the moment. "
NAPEPLD
  • German dog
  • Rottweiler

Individual breeds
Leukoencephalomyelopathy (LEMP) is a neurodegenerative disease of the central nervous system. It is characterized by demyelination in the white matter of the spinal cord and brain. It is clinically manifested by progressive ataxia, limb paresis of varying severity, dysmetry with proprioceptive deficiency in all limbs. The age of the first symptoms is 1 year and older. This test offers a study of a mutation found only in Rottweiler and Great Dane breeds.