Dandy-Walker-Like Malformation

Other Names: Cerebellar Ataxia, Cerebellar Hypoplasia, Dandy-Walker-like Malformation, VLDLR-Associated Cerebellar Hypoplasia, DWLM
Affected Genes: VLDLR
Inheritance: Autosomal Recessive
Mutation: chr1:91266144-91266144: 1 bp deletion (del C)
Breed(s): Eurasier

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Common Symptoms

Dandy-Walker-like Malformation is an inherited neurological disease affecting dogs. Affected dogs are identified when they begin walking with non-progressive signs of neurological dysfunction caused by underdevelopment of a part of the brain known as the Cerebellum, which plays an important role in coordinated movement. Clinical signs include tremors, reduced or absent reflexes, subtle high-stepping gait, involuntary abnormal eye movements, and rolling or leaning to one side. Neither behavior nor ability to learn are impaired in affected dogs.


Testing Tips

Genetic testing of the VLDLR gene will reliably determine whether a dog is a genetic Carrier of Dandy-Walker-like malformation. Dandy-Walker-like malformation is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the VLDLR gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Bernardino F, Rentmeister K, Schmidt MJ, Bruehschwein A, Matiasek K, Matiasek LA, Lauda A, Schoon HA, Fischer A. Inferior Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation in Purebred Eurasier Dogs with Familial Non-Progressive Ataxia: A Retrospective and Prospective Clinical Cohort Study. PLoS One. 2015 Feb 10;10(2):e0117670. doi: 10.1371/journal.pone.0117670. [PubMed: 25668516]
  • Gerber M, Fischer A, Jagannathan V, Drogemuller M, Drogemuller C, Schmidt MJ, Bernardino F, Manz E, Matiasek K, Rentmeister K, Leeb T. A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM). PLoS One. 2015 Feb 10;10(2):e0108917. doi: 10.1371/journal.pone.0108917. [PubMed: 25668033]