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Belgian/Dutch Shepherd panel: CACA, CJM, SDCA1, SDCA2 and DM exon 2
General · Dog
Multi-disease panel aimed at the Belgian Shepherd (Malinois, Laekenois, Groenendael, Tervueren varieties) and the Dutch Shepherd that groups five tests for hereditary conditions described in these breeds: CNS atrophy with cerebellar ataxia (CACA), cardiomyopathy with juvenile mortality (CJM), spongy degeneration with cerebellar ataxia type 1 (SDCA1), spongy degeneration with cerebellar ataxia type 2 (SDCA2) and degenerative myelopathy (DM exon 2). Idiopathic epilepsy of the Belgian Shepherd is a multifactorial trait with no validated molecular test, so it is assessed by phenotype and pedigree, not by genotype.
Incidence
Applicable breeds: Belgian Shepherd and Dutch Shepherd. The SDCA forms have been documented mainly in Malinois. CACA showed a carrier frequency of 6 % in 631 unaffected Belgian Shepherds (38 carriers) and CJM of 27.2 % in tested dogs; DM data vary greatly between breeds and lines. Consolidated population figures: limited data.
Clinical signs
- Progressive cerebellar ataxia with aberrant intention and hypermetria (CACA, SDCA1, SDCA2)\n- Signs of demyelination/neurodegeneration: tremors, weakness, motor deterioration\n- Juvenile sudden death or early-onset heart failure (CJM)\n- Progressive limb paresis with proprioceptive ataxia (DM)\n- Recurrent epileptic seizures (idiopathic epilepsy)
History
The hereditary cerebellar ataxias of the Belgian Shepherd were characterised by European groups: CACA is due to a SELENOP deletion (Christen 2021), SDCA1 to KCNJ10 (Mauri 2017) and SDCA2 to a SINE insertion in ATP1B2 (Mauri 2017); CJM is associated with YARS2 (Gurtner 2020). Canine DM was linked to the exon 2 variant of SOD1 (Awano 2009). Epilepsy of the Belgian Shepherd is studied as a complex trait and has no validated molecular test.
Breeder management
- Genotype breeding animals before mating; the panel makes it possible to manage several conditions in a single sample\n- For the recessive conditions (CACA, CJM, SDCA1, SDCA2): do not mate carrier × carrier (25 % risk of affected homozygotes); carrier × clear produces 0 % affected and 50 % carriers\n- For DM: remember the incomplete penetrance; do not base euthanasia decisions on genotype alone\n- Epilepsy is managed by clinical phenotype and pedigree: there is no validated molecular test and an affected animal should not be bred\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer
Specialist notes
Verify which specific variants each laboratory includes, because Belgian Shepherd panels vary between providers. Differentiate SDCA1/SDCA2/CACA clinically by age of onset and pattern (MRI, electromyography). DM is a diagnosis of exclusion: rule out spinal cord compression, disc herniation and neoplasia. Idiopathic epilepsy of the Belgian Shepherd requires clinical diagnosis (EEG, video monitoring) and exclusion of secondary causes before attributing it to genetic predisposition.
References
1. Christen M et al. 2021. Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. PLoS Genet. PMID: 34339417. 2. Gurtner C et al. 2020. YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. Genes (Basel). PMID: 32183361. 3. Mauri N et al. 2017. A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda). PMID: 28007838. 4. Kleiter M et al. 2011. Spongy degeneration with cerebellar ataxia in Malinois puppies: a hereditary autosomal recessive disorder? J Vet Intern Med. PMID: 21488963. 5. Mauri N et al. 2017. A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda). PMID: 28620085. 6. Awano T et al. 2009. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy. PNAS. PMID: 19188595. OMIA:002367-9615, OMIA:002256-9615, OMIA:002089-9615, OMIA:002110-9615, OMIA:000263-9615.
Tests included in this pack (5)
- Central Nervous System Atrophy with Cerebellar Ataxia (CACA)
- Cardiomyopathy with Juvenile Mortality (CJM)
- Spongy Degeneration with Cerebellar Ataxia Type 1 (SDCA1)
- Spongy Degeneration with Cerebellar Ataxia Type 2 (SDCA2)
- Canine Degenerative Myelopathy exon 2 (All Breeds)
Price: 89,48 € · Turnaround time: 7 days