Description: Hereditary ataxias in dogs are a heterogeneous group of neurological diseases characterized by cerebellar or spinocerebellar dysfunction, with their characteristic feature being uncoordinated movement. In purebred dogs, closed breeding populations and some degree of inbreeding are common, which increases the risk of recessively inherited diseases, including hereditary ataxias. There are several genetically distinct forms of cerebellar ataxia in Belgian Shepherds. Mutations in various genes have been described with similar clinical symptoms such as tremor during purposeful movement, overall increased muscle tone, reduced swallowing reflex, and short episodic spastic seizures of varying intensity.
Diseases with similar symptoms can be caused by mutations in the genes KCNJ10 (SDCA1), ATP1B2 (SDCA2), SELENOP (CACA), and the variant SLC12A6:c.178_181delins-CATCTCACTCAT. In 2023, Mathias Christen et al. described ataxias in Belgian Shepherds associated with a mutation in the RALGAPA1 gene. In addition to the obvious clinical signs in affected dogs, histopathology revealed cytoplasmic accumulation of granular material in cerebellar Purkinje cells. Clinical signs may stabilize in affected dogs but persist into adulthood. Most often, however, they are very serious, and dogs are euthanized at the age of a few weeks.
Inheritance: autosomal recessive
Mutation: ~4.8 kb deletion in RALGAPA1 gene, Chr8:14,468,376_14,473,136del4761
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Belgian Shepherd
Notes: Diseases with similar symptoms may be caused by mutations in the KCNJ10 gene (SDCA1), ATP1B2 gene (SDCA2), SELENOP (CACA).
