Other Names: Amaurotic idiocy, Batten disease, NCL, NCL2
Inheritance: Autosomal Recessive
Mutation(s): 1 bp deletion (del C)
Affected Gene(s): TPP1
Affected Breed(s): Dachshund, Miniature Longhaired Dachshund, Miniature Smooth Dachshund, Miniature Wirehaired Dachshund, Standard Longhaired Dachshund, Standard Smooth Dachshund, Standard Wirehaired Dachshund

Common Symptoms

Neuronal ceroid lipofuscinosis 2 (NCL2) is an early-onset, lysosomal storage disease affecting dogs. NCL2 is due to a deficiency in the enzyme tripeptidyl peptidase (TPP1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present with progressive neurologic disease around 9 months of age. Symptoms include loss of learned behavior, mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior. Symptoms progress very quickly and dogs typically die by 12 months of age.

References

  • Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab. 2006 Nov; 89(3):254-60. [PubMed: 16621647]