Test Detail

Central nervous system atrophy with cerebellar ataxia (CACA) of the Belgian Shepherd, caused by a deletion in the SELENOP gene (formerly SEPP1) that impairs selenium transport. Affected puppies show progressive ataxia and cerebellar signs. The genetic test is complementary to the neurological examination.

Carriers: 6 % (38 of 631 unaffected Belgian Shepherds); the deletion was absent in 735 control genomes. Outside the index family: limited data.

- Genotype breeding animals of all Belgian Shepherd varieties (SELENOP deletion test) before mating.\n- Do not cross carrier×carrier (25 % affected homozygotes); carrier×clear does not produce affected animals.\n- A priority in lines with juvenile ataxia; also rule out SDCA1 (KCNJ10) and SDCA2 (ATP1B2).\n- Record cases with genetic confirmation to estimate the true prevalence.

The differential diagnosis includes other hereditary ataxias and acquired processes (inflammatory, toxic, metabolic). The molecular basis is not fully defined; clinical confirmation relies on the presentation, MRI and the exclusion of other causes. Onset in young animals. Supportive management.

1. Christen M et al. 2021, deleción del gen SELENOP causa atrofia del SNC con ataxia cerebelar en perros (PMID 34339417)
2. OMIA:002367 CACA (SELENOP)