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Dog hereditary diseases

DSD105
Leonberger leukoencephalomyelopathy
LEMP
10
Dogs
Hereditary diseases
Leukoencephalomyelopathy (LEMP) is a neurodegenerative disorder with characteristics similar to Leonberger polyneuropathy, including progressive gait disturbances and lack of coordination, and abnormal limb movements. It is caused by 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. Leonberger leukoencephalomyelopathy is caused by a single nucleotide substitution in the NAPEPLD gene (N-acyl phosphatidylethanolamine phospholipase D). This gene encodes a protein of the endocannabinoid system that plays an important role in myelin homeostasis. There are about 15% of carriers of the mutation in the breed. Since not all mutation homozygotes show signs of the disease, it is likely that another, as yet unknown factor is needed for the development of leukoencephalomyelopathy.
Autosomal recessive inheritance with incomplete penetrance
NAPEPLD
N
M
Leonberger
Individual breeds