Cerebellar Hypoplasia, VLDLR-associated
Breed: Eurasian
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Cerebellar Hypoplasia, VLDLR-associated
OMIA
1947
Gene Name
VLDLR
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.
Published 2
Bernardino, F., Rentmeister, K., Schmidt, M.J., Bruehschwein, A., Matiasek, K., Matiasek, L.A., Lauda, A., Schoon, H.A., Fischer, A. : 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:e0117670, 2015. Pubmed reference: 25668516. DOI: 10.1371/journal.pone.0117670.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Eurasier
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
VLDLR
Mutation
c.1713delC
Nature of test
mutation test
Application in the Breed
Abnormal development and structure of the cerebellum
Inheritance
AR
FCI Number
291
GTP Breed
Eurasian
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
VLDLR
Mutation
c.1713delC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Dandy-Walker-like malformation
GTP Disease Synonym
DWLM
Gene Name
VLDLR
Mutation
c.1713del
Mutation Comment
g.91266144del
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
VLDLR
Mutation
c.1713delC; p.W572Gfs*10
Nature of test
mutation test
FCI Number
291
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
VLDLR
Mutation
c.1713delC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
VLDLR
Mutation
c.1713delC
Nature of test
mutation test
FCI Number
291
GTP Breed
Eurasian
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA