Investigation of an inherited cerebellar malformation in the Eurasier breed dog [thesis]

Filipa de Faria Pedro Bernardino
Cerebellar malformations result from insults during embryogenesis or are inherited. Inherited cerebellar abiotrophies are frequently recognized in dogs and usually result in progressive ataxia. Evidence for inherited cerebellar hypoplasia is rare in the veterinary literature. Therefore the aim of this study was to describe the clinical and neuroimaging phenotype of a potentially inherited cerebellar malformation in Eurasier dogs. Clinical and imaging data of 32 Eurasier dogs with neurological
more » ... with neurological signs were collected retrospectively and prospectively. An uniform cerebellar malformation characterized by absence of the caudal parts of the cerebellar vermis and the caudal parts of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was identified in 14 closely related purebred Eurasier dogs. Diagnosis was based on MRI (n = 8), CT (n = 3), or post-mortem examination (n = 3). A wide variation in caudal fossa size as well as hydrocephalus and thinning of the corpus callosum were observed in some dogs. Clinically the dogs showed non-progressive cerebellar ataxia, which was observed for the first time when the puppies began to walk. Variable degrees of ataxia were observed, varying from mild truncal sway, mild dysmetria, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia with episodic falling or rolling. Other clinical signs observed in some dogs were nystagmus, an absence of the bilateral or unilateral menace reaction beyond 10-12 weeks of age, head tremors and epileptic seizures with an age of onset between 5 months and 4 years of age. Follow-up examinations showed a pronounced improvement of the cerebellar ataxia in adult dogs. Detailed pedigree analyses, which included confirmation of the phenotype by MRI of littermates and parents of multiple litters suggested an autosomal recessive inheritance. In conclusion, the neuroimaging phenotype observed in the Eurasier breed dogs is characterized by an autosomal recessive inherited inferior cerebellar hypoplasia with some rese [...]
doi:10.5282/edoc.18725 fatcat:cld3hndiynffpnhblrfdkblvgy