order swabs REGISTER 0

Store

Order Swabs

Cerebellar Cortical Degeneration (Hungarian Vizsla Type)

$50.00 (RRP)

$50.00 (MEMBER PRICE)

ADD TO CART

Description:

Cerebellar cortical degeneration is an inherited, progressive neurological disease affecting vizslas. Affected dogs present around 2 to 4 months of age with rapidly progressive neurological dysfunction due to death of nerve cells in a part of the brain known as the Cerebellum, which plays an important role in coordinated movement. Clinical signs include head tremors, delayed or absent reflexes, and uncoordinated movements (Ataxia) which become progressively more severe over weeks to months. Affected dogs are often euthanized due to quality of life concerns within a few weeks of the initial clinical signs.

Test Overview:

Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variable age at onset and rate of progression between different breeds. Cerebellar histopathological findings typically consist of primary Purkinje neuronal degeneration and loss, with variable secondary depletion of the granular and molecular cell layers. Causative genes have been identified associated with CCD in several breeds, allowing screening for selective breeding to reduce the prevalence of these conditions.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SNX14

Variant Detected:

chr12:45530566 (canFam3): G/A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SNX14 gene will reliably determine if a dog is a genetic carrier of cerebellar cortical degeneration.

Research Citation(s):

Fenn J, Boursnell M, Hitti RJ, Jenkins CA, Terry RL, Priestnall SL, Kenny PJ, Mellersh CS, Forman OP. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet. 2016 Aug 26;17(1):123. doi: 10.1186/s12863-016-0433-y. [PubMed: 27566131]

Associated Breed(s):

Hungarian Vizsla, Hungarian Wirehaired Vizsla, Mixed Breed,

##parent-placeholder-19bd1503d9bad449304cc6b4e977b74bac6cc771##