Leukoencephalomyelopathy in Leonbergers

Leukoencephalomyelopathy (LEMP) is a neurodegenerative disease of the brain and spinal cord that is caused by a failure of cellular immunity. As a result of demyelination, affected dogs have difficulty moving, their gait is ataxic, and proprioception is absent. The disease manifests itself in young dogs.

This condition is caused by a missense mutation c.538G>C in the NAPEPLD phospholipase gene in Leonbergers.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Minor, K.M., Letko, A., Becker, D., Drögemüller, M., Mandigers, P.J.J., Bellekom, S.R., Leegwater, P.A.J., Stassen, Q.E.M., Putschbach, K., Fischer, A., Flegel, T., Matiasek, K., Ekenstedt, K.J., Furrow, E., Patterson, E.E., Platt, S.R., Kelly, P.A., Cassidy, J.P., Shelton, G.D., Lucot, K., Bannasch, D.L., Martineau, H., Muir, C.F., Priestnall, S.L., Henke, D., Oevermann, A., Jagannathan, V., Mickelson, J.R., Drögemüller, C.: Canine NAPEPLD-associated models of human myelin disorders. Sci Rep 8:5818, 2018. Pubmed reference: 29643404