CNS atrophy with cerebellar ataxia (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.
