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Neuronal Ceroid Lipofuscinosis 1 (Dachshund Type)

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

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 , 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,