Leukoencephalomyelopathy (LEMP)
Breed: Leonberger
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Leukoencephalomyelopathy (LEMP)
OMIA
1788
Gene Name
NAPEPLD
Mutation
g.16987520G>C
Mutation 2
c.538G>C
Test Type
Genetic Disease/Disorder
Details
"The neurological disorder leukoencephalomyelopathy (LEMP) is a recessively inherited neurodegenerative disorder that affects the white matter of the central nervous system (CNS). Canine LEMP is characterized by slowly worsening gait abnormalities, especially spontaneous knuckling, dragging of the paws and hypermetria of the thoracic limbs, and a characteristic pattern on magnetic resonance imaging (MRI). Affected dogs show corresponding gross lesions in the cervical spinal cord white matter that may extend to the thoracic spinal cord, as well as to the brain; peripheral nerve and muscle biopsies are unremarkable. Canine LEMP often shows a juvenile onset and is characterized by a generalized progressive ataxia. Spinal reflexes of affected dogs are mostly normal. In the progressive clinical course of the disease, affected dogs may become increasingly immobile within a few months. Like many diseases of the CNS, there is no effective treatment for LEMP. Since in most cases the dog is not in pain, but is strongly restricted in its quality of life, owners are encouraged to ask a veterinarian for advice." [From University of MN]
Details 2
"A neurological disorder, termed leukoencephalomyelopathy (LEMP) has described in Rottweiler and Leonberger dogs. LEMP is a recessively inherited neurodegenerative disorder that affects the white matter of the central nervous system (CNS). Canine LEMP is characterized by slowly worsening gait abnormalities, especially spontaneous knuckling, dragging of the paws and hypermetria of the thoracic limbs, and a characteristic pattern on magnetic resonance imaging (MRI). Affected dogs show corresponding gross lesions in the cervical spinal cord white matter that may extend to the thoracic spinal cord, as well as to the brain; peripheral nerve and muscle biopsies are unremarkable. Canine LEMP often shows a juvenile onset and is characterized by a generalized progressive ataxia. Spinal reflexes of affected dogs are mostly normal. In the progressive clinical course of the disease, affected dogs may become increasingly immobile within a few months. Like many diseases of the CNS, there is no effective treatment for LEMP. Since in most cases the dog is not in pain, but is strongly restricted in its quality of life, owners are encouraged to ask a veterinarian for advice." [From University of MN]
Published
Canine NAPEPLD-associated models of human myelin disorders; Minor KM, Letko A, Becker D, et al. (2018); Scientific Reports, volume 8, Article number: 5818 (2018); doi:10.1038/s41598-018-23938-7
Inheritance
AR
Breed Specific Info
Breed-specific 1
Leonberger
Breed-specific 1 Details
"LEMP in Leonbergers is a partially penetrant autosomal recessive central neverous system disease resulting from an amino acid change within the gene NAPEPLD. All Leonbergers with confirmed LEMP have tested homozygous affected (D/D) for this LEMP mutation; however, not all dog that are homozygous for this mutation may show obvious clincial signs of disease within their lifetime. Clincal signs may develop as early as 1 year of age." [From University of MN]
Breed-specific 2
Rottweiler
Breed-specific 2 Details
"LEMP in Rottweilers is a autosomal recessive central neverous system disease resulting from a 1 basepair insertion within the LEMP gene; cincal signs may develop as early as 1 year of age. All studied Rottweilers homozygous affected (D/D) for this LEMP mutation have shown clinical signs of disease. However, not all Rottweilers with suspected LEMP have tested affected for this mutation. It is possible that these dogs may be suffering from a different form of LEMP or the other neurodegenerative disase described in this breed - Neuroaxonal Dystropy." [From University of MN]
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
LEMP
Gene Name
NAPEPLD
Mutation
c.538G>C
Mutation Comment
g.16987520G>C
University of Minnesota Canine Genetics Lab
GTP
GTP Name
University of Minnesota Canine Genetics Lab
Breed
OMIA
Gene Name
NAPEPLD
Mutation
g.16987520G>C
FCI Number
145
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
NAPEPLD
Mutation
g.16987520G>C
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
NAPEPLD
Mutation
g.16987520G>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA