Disease overview

Cerebellar hypoplasia is a neurological condition characterized by inadequate development of the cerebellum. The cerebellum is the part of the brain responsible for controlling coordination and balance. It helps fine tune complex movements, and aids in planning, timing, and force of movements. This disease leads to abnormal, uncoordinated movements (ataxia).

Gene name

VLDLR

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of cerebellar hypoplasia may include uncoordinated gait, intention tremors, and lack of balance. Affected dogs may present with involuntary eye movement (nystagmus). This disease can present with symptoms as early as 2 weeks of age.

How is it diagnosed

Clinical signs are suggestive of a cerebellar disease, although not specific for this mutation. Other causes must be ruled out if a genetic cause is not readily apparent. MRI can help diagnose this condition.

Breeds at higher risk

Citations

Gerber M, Fischer A, Jagannathan V, Drögemüller M, Drögemüller C, Schmidt MJ, 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. 2015 Feb 10;10(2):e0108917. doi: 10.1371/journal.pone.0108917. PMID: 25668033; PMCID: PMC4323105.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.