Neonatal Cerebellar Cortical Degeneration

 

Gene: SPTBN2

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, SPTBN2 gene; c.5921 del. CAAGGCA, p.(I1952 R fs STOP 28), exon29

Medical system: Neurological

Breeds: Beagle, French Bulldog

Age of onset of symptoms: Around the age of 3 weeks

Neonatal Cerebellar Cortical Degeneration (NCCD) is a hereditary neurodegenerative disease characterized by the deterioration the cerebellum, the part of the brain involved with the co-ordination of muscle movements.  Specifically, there is loss of Purkinje cells and swelling of dendritic processes within the cerebellum.  Affected dogs suffer from ataxia involving a lack of coordination in their movements and loss of balance. They have difficulty walking and tend to cross their legs, make jerky movements with their paws and head, and have tremors.  The progression of the disease is slow, but the condition does not improve.  Affected animals are often euthanized for humanitarian reasons.

 

References:

OMIA link: [2092-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. [pubmed/37341581]

Fenn J, Boursnell M, Hitti RJ, et al. (2016) 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. 17(1):123. [pubmed/27566131]

Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E. (2012) Genome-wide mRNA sequencing of a single canine cetebellar corticala degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genetics 13:55 [pubmed/22781464]

Kent M, Glass E, deLahunta A. (2000) Cerebellar cortical abiotrophy in a beagle. J Small Anim Pract. 41(7):321-3. [pubmed/10976629]