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Leukoencephalomyelopathy (LEMP)

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Test Overview:

Leukoencephalomyelopathy affects dogs an dis an inherited progressive neurologic disease. Affected dogs experience degeneration of a fatty tissue layer, known as Myelin, which forms an insulating sheath around nerves and increases the speed of nerve signal transmission. Dogs with Leukoencephalomyeopathy present with slowly progressive signs of neurological dysfunction including incoordination, high stepping gait, and weakness in all four limbs, as early as one year of age. Additionally, a wide-based stance with occasional involuntary crossing of limbs is common. Inappropriate placement of feet while walking may result in severe toenail wear. Affected dogs are often humanely euthanised by five years of age due to increasingly severe neurological dysfunction and a lack of effective treatment options. More common symptoms of Leukoencephalomyelopathy in affected dogs include: - inability to control bodily movements - inability to judge distance - generalised muscle weakness - hypermetria - exaggerated spinal reflexes. Neuronal examination revealed myelin breakdown, followed by swelling of the axons.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

NAPEPLD

Variant Detected:

chr18:16987327-16987328 (canFam3): 1 bp insertion (ins C)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the NAPEPLD gene will reliably determine if a dog is a genetic carrier of Leukoencephalomyelopathy.

Research Citation(s):

Oevermann, A., Bley, T., Konar, M., Lang, J. and Vandevelde, M. (2008): A novel leukoencephalomyelopathy of Leonberger dogs. Journal of Veterinary Internal Medicine, 22: 467–471. doi:10.1111/j.1939-1676.2008.0068.x Minor KM, Letko A, Becker D, et al. (2018) Canine NAPEPLD-associated models of human myelin disorders. Scientific Reports 8, Article number: 5818. doi:10.1038/s41598-018-23938-7 Gamble DA and Chrisman CL. A Leukoencephalomyelopathy of Rottweiler Dogs. Vet Pathol. 1984 May;21(3):274-80. doi: 10.1177/030098588402100302. [PubMed: 6730216] Hirschvogel K, Matiasek K, Flatz K, Drogemuller M, Drogemuller C, Reiner B, Fischer A. Magnetic resonance imaging and genetic investigation of a case of rottweiler leukoencephalomyelopathy. BMC Vet Res. 2013 Mar 26;9:57. doi: 10.1186/1746-6148-9-57. [PubMed: 23531239] Minor KM, Letko A, Becker D, Drogemuller M, Mandigers PJJ, Bellekom SR, Leegwater PAJ, Stassen QEM, Purschbach K, Fischer A, Flegel T, Matiasek K, Ekenstedt KJ, Furrow E, Patterson EE, Platt SR, Kelly PA, Cassidy JP, Shelton GD, Lucot K, Bannasch DL, Martineau H, Muir CF, Priestnall SL, Henke D, Oevermann A, Jagannathan V, Mickelson JR, and Drogemuller C. Canine NAPEPLD-associated models of human myelin disorders. Sci Rep. 2018 Apr 11;8(1):5818. doi: 10.1038/s41598-018-23938-7. [PubMed: 29643404]

Associated Breed(s):

Great Dane, Rottweiler ,
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