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Cerebellar Hypoplasia, VLDLR-associated

Breeds

Relevance Rating: Moderate evidence for test being meaningful in this breed

General

Disease Name
Cerebellar Hypoplasia, VLDLR-associated
Mutation
c.1713delC
Mutation 2
p.W572Gfs*10
Test Type
Genetic Disease/Disorder
Details
Cerebellar Hypoplasia, sometimes called Dandy-Walker-like Malformation. This disease causes hydrocephalus ("water on the brain"), and/or fluid building up in the brain, and other malformations of the brain. All dogs reported to have non-progressive ataxia. The severity of the ataxia varied between dogs, from very mild changes in movement, to episodic falling and rolling. Age of onset from 5-6 weeks old. Epileptic seizures occurred in some dogs.
Details 2
This disorder in Eurasier dogs was described by Bernardino et al. (2015): "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" (from OMIA)
Published
Gerber, M., Fischer, A., Jagannathan, V., Drögemüller, M., Drögemüller, C., Schmidt, M.J., 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 10:e0108917, 2015. Pubmed reference: 25668033. DOI: 10.1371/journal.pone.0108917.
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