Testing of dogs: CA1

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Cerebellar Ataxia CA1 in Belgian Shepherds

There are several genetically distinct forms of cerebellar ataxia in Belgian Shepherds. Here, we describe CA1, a disease caused by a deletion in exon 35 of the RALGAPA1 gene. The c.6080-2893_6944+1003del mutation leads to premature insertion of the stop codon into the transcript and to a shortening of the resulting protein by approximately 23%.

Clinical signs, mainly uncoordinated movement and intention tremor, appear in the first weeks of life, stabilize around 6-11 weeks of age, but remain evident into adulthood.

CA1 is a recessively inherited disease. The disease develops in dogs which inherit the mutated gene from each parent. These dogs are designated as P/P (positive/positive). The carriers of the mutated gene are designated as N/P (negative/positive). The carriers inherited the mutated gene from one parent only and are without clinical signs. However, they pass the disease on to their offspring. When mating two heterozygotes (N/P), there will be theoretically 25% of the offspring healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will be affected by CA1. Mating one healthy dog (N/N) with a carrier of this mutation (N/P) will theoretically produce 50% carriers and 50% healthy offspring. If a carrier (N/P) is mated with an affected dog (P/P), there will be theoretically 50% affected dogs and 50% carriers.

References:

Christen M, Zdora I, Leschnik M, Jagannathan V, Puff C, Hünerfauth E, Volk HA, Baumgärtner W, Koch TC, Schäfer W, et al. RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia. Genes. 2023; 14(8):1520. https://doi.org/10.3390/genes14081520

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