Leukoencephalomyelopathy (Leonberger Type)*

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. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce 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):

https://www.ncbi.nlm.nih.gov/pubmed/29643404?dopt=Abstract 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]