Neuronal Ceroid Lipofuscinosis 1 (Dachshund Type)

Category:

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

Gene:

Palmitoyl-protein thioesterase 1 (PPT1) on Chromosome 15

Variant Detected:

Nucleotide Insertion c.736insC p.frameshift

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

Research Citation(s):

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 , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed,