ZNS-Atrophie mit zerebellarer Ataxie (CACA)
CNS atrophy with cerebellar ataxia (CACA)
General description
Affected puppies show uncoordinated movements, intention tremor, short episodes of spastic fits, general elevated muscle tone and a reduced swallowing reflex. Moreover, affected puppies show less body weight increase as their unaffected littermates. Fist signs could be observed at the age of about 2 weeks. However, the severity of the signs are highly variable.
Breeds
Belgian Shepherd Dog, Groenendael, Laekenois, Malinois, Tervueren
Order details
| Test number | 8697 |
| Abbreviation | CACA |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 2 weeks |
| Causality | causally |
| Gene | SELENOP |
| Mutation | COMPLEX |
| Literature | OMIA:002367-9615 |
Detailed description
Our cooperation partner Prof. Tosso Leeb and his team from the University of Bern have identified a new genetic variant causing a neurological disease called CNS atrophy and cerebellar ataxia (CACA) in the breed Belgian Shepherd.\nAffected puppies show uncoordinated movements, intention tremor, short episodes of spastic fits, general elevated muscle tone and a reduced swallowing reflex. Moreover, affected puppies show less body weight increase as their unaffected littermates. First signs could be observed at the age of about 2 weeks. However, the severity of the signs are highly variable. \nMany affected puppies have to be euthanized a few weeks after the first signs whereas an affected dog with less intense symptoms has been reported to become up to 10 years old.
