Neuronal Ceroid-Lipofuscinosis 1 (Dachshund)

Application:
- Identification of heterozygous carrier animals.
- Differential diagnosis of diseases of the central nervous system
The test examines whether the PPT1:c.736_737insC mutation is present in the PPT1 gene, which has been identified as the cause of NCL1 disease in dwarf dachshunds. NCL1 (neuronal ceroidipofuscinase 1) is a disease of the central nervous system. Affected animals suffer from perceptual difficulties and increasing motor and cognitive impairments and die prematurely. NCL1 is inherited in an autosomal recessive manner and only occurs when two mutant alleles are present.