Abstract
Cerebellar malformations can be inherited or caused by insults during cerebellar development. To date, only sporadic cases of cerebellar malformations have been reported in dogs, and the genetic background has remained obscure. Therefore, this study`s objective was to describe the clinical characteristics, imaging features and pedigree data of a familial cerebellar hypoplasia in purebred Eurasier dogs. A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5 – 6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs. Pedigree analyses were consistent with autosomal recessive inheritance.
Highlights
Cerebellar malformations can be inherited or acquired from insults during cerebellar development
Dandy-Walker malformation (DWM) and related malformations are classified as disorders of mesenchymal-neuropithelial signaling whereas VLDLR and reelin pathway mutations are classified as malformations of neuronal migration that predominantly affect the cerebellum and brainstem [16]
Other diagnoses were confirmed in six dogs: caudal fossa arachnoid cyst, hydrocephalus restricted to the supratentorial region, and idiopathic epilepsy
Summary
Cerebellar malformations can be inherited or acquired from insults during cerebellar development. The most frequently documented etiologic factor in cerebellar malformations in the veterinary literature is viral infection of the developing cerebellum [4,5], but attempts to amplify parvovirus have failed in dogs with midline malformations and vermian defects resembling a Dandy-Walker malformation (DWM) [4]. Recent evidence suggests that DWM and related malformations may represent a continuum and a classification system based on embryonic development and genotype has been proposed [16,17]. With this classification system, DWM and related malformations are classified as disorders of mesenchymal-neuropithelial signaling whereas VLDLR and reelin pathway mutations are classified as malformations of neuronal migration that predominantly affect the cerebellum and brainstem [16]
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