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This condition is caused by accumulation of a yellow lipopigments in the body’s tissues mainly affecting the retina and nerve cells. Lipofuscin in high levels causes membrane damage, damage to mitochondria and lysosomes causing progressive and permanent loss of motor and psychological ability.
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Palmitoyl-protein thioesterase 1 (PPT1) on Chromosome 15
Nucleotide Insertion c.736insC p.frameshift
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:
Sanders, DN. et al. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund (2010), Mol Genet and Metab 100(4);349–356
Associated Breed(s):Dachshund , Miniature Dachshund Long Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed, Standard Dachshund Long Hair, Standard Dachshund Smooth Hair, Standard Dachshund Wire Hair,