
Testing of dogs: CA1
Related tests
- Combination Belgian Shepherd CACA + CJM + CA1 + DM (SOD1A) + SDCA1 + SDCA2
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.
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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