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Neuronal Ceroid Lipofuscinosis 1 (NCL1 Dachshund)

Neuronal ceroid lipofuscinosis 1 (NCL1) is a metabolism-induced neurodegenerative disease in Dachshunds caused by an alteration of a single base pair in exon 8 of the TPP1 gene. In this disease, a waste product of cell metabolism (ceroid lipofuscin, CL), is stored in the cells and is not metabolised further. CL accumulates in the nerve cells of the retina and brain. Affected animals therefore show symptoms such as visual disorders, balance disorders and later completely disoriented behaviour and physical degeneration.

The inheritance is autosomal recessive.

 

Genetic Test: available in Shop

Symptoms

  • Visual disorders
  • Blindness
  • Balance disorders
  • Deformed posture
  • Change in behaviour
  • Disoriented behaviour
  • Physical degeneration

General Information

  • Neuronal ceroid lipofuscinosis 1 (NCL1) is a metabolic neurodegenerative disease.
  • The waste product of cell metabolism, ceroid lipofuscin, is stored in the cells and not metabolised further.
  • This leads to the deposition of ceroid lipofuscin in the brain and retina.
  • The function of the nerve cells is severely damaged as a result.
  • Disorders of the sense of sight appear at the age of 7 months, the brain is affected from the age of 9 months.
  • NCL1 cannot be treated, often affected animals are euthanised.

Breeds affected

Dachshund (Teckel)

Test Information

This mutation test detects an insertion (c.736-737insC) in exon 8 of the PPT1 gene.

 

Test in Shop

 

Also in the Hereditary diseases Dachshund 1 package

Genotype and Lab Report

Inheritance: autosomal recessive

→ The disease only occurs if both alleles of the gene are affected by the mutation (ncl1/ncl1). Dogs that have only one allele with the causative mutation (N/ncl1) are clinically healthy carriers.


Genotypes:


N/N = genetically normal

The dog has no predispositions for NCL 1 and therefore cannot pass it on to its offspring.


N/ncl1 = a carrier

The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, who are also carriers.


ncl1/ncl1= affected

The variation would be passed on 100% to the offspring. The animals do not reach breeding maturity.

Recommendations

  • Carrier animals can be bred to normal animals (N/ncl1 x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
  • Mating two carrier animals (N/ncl1 x N/ncl1) should be avoided because there is a 25% chance that the offspring will be affected.
  • Affected animals (ncl1/ncl1) should be excluded from breeding but nearly never reach maturity.

Literature

Sanders, DN., Farias, FH., Johnson, GS., Chiang, V., Cook, JR., O’Brien, DP., Hofmann, SL., Lu, JY., Katz, ML.: A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-56, 2010. Pubmed reference: 20494602. Doi: 10.1016/j.ymgme.2010.04.009.

 

Further information is available at: Online Mendelian Inheritance in Animals.

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