Test Detail

Congenital malformation of the cerebellum and posterior fossa described in the Eurasier, equivalent to the human Dandy-Walker complex. It consists of hypoplasia/agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle and altered development of the posterior fossa. It produces cerebellar signs in puppies and, depending on severity, signs of pressure or associated hydrocephalus.

Affected breed: Eurasier. Cases are described in specific lines of the breed; no reliable figures on incidence or carrier frequency have been published. Consider data limited.

- A direct genetic test for the VLDLR c.1713delC deletion is available: genotype breeding animals and avoid matings between carriers
- Do not breed affected animals or homozygotes
- Do not repeat the parental mating after a confirmed case and document the pedigree
- Communicate the history and genetic status to the buyer

Differential diagnosis with other causes of congenital cerebellar ataxia in the puppy (cerebellar hypoplasia of various breeds: Boston terrier, Smooth collie, etc.; late-onset cerebellar abiotrophy in breeds such as the Kerry blue terrier; episodic falling in the CKCS) and with congenital hydrocephalus. Magnetic resonance imaging is decisive: it shows agenesis/hypoplasia of the vermis, a posterior fossa cyst and dilatation of the fourth ventricle. The prognosis varies with severity; there is no curative treatment, only symptomatic and supportive management.

1. Gerber 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. PMID: 25668033
2. OMIA:001947-9615. Cerebellar hypoplasia, VLDLR-associated, perro.