Dandy Walker Syndrome

 

Gene: VLDLR

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, VLDLR gene; c.1713 del.C, exon12

Medical system: Nervous

Breed: Eurasier

Age of onset of symptoms: from 5 to 6 weeks

Dandy Walker Syndrome is a genetic neurological disorder characterized by partial or complete cerebellar hypoplasia affecting the cerebellar vermis. Symptoms include intellectual disability, loss of balance and non-progressive cerebellar ataxia.  Affected dogs may have difficulty walking, and hydrocephalus and epileptic seizures have also been reported in some cases.  The intensity of clinical signs varies according to the severity of the malformation and can range from a simple trunk swing to limb ataxia with episodes of falls.  This disease is seen in other breeds of dog (Airedale Terrier, Boston Terrier, Chow Chow, Dachshund, Labrador Retriever, Miniature Schnauzer, Shih Tzu and Weimaraner), however it is not as yet clear what is the causal mutation(s) within these additional breeds.

 

References:

OMIA link: [1947-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Lauda A, Bruehschwein A, Ficek J, et al. (2018) Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs With VLDLR-Associated Genetic Cerebellar Hypoplasia. Front Vet Sci. 4:241. [pubmed/25668516]

Kling Vegeby E, Christiansson H. (2016) Dandy-Walker-like malformation in the Danish Eurasier population. University of Copenhagen  [thesis MSc]

Bernardino F, Rentmeister K, Schmidt MJ, et al. (2015) 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. 10(2):e0117670. [pubmed/25668516]

Gerber M, Fischer A, Jagannathan V, Drögemüller M, et al. (2015) A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).PLoS One. 10(2):e0108917. [pubmed/25668033]