Cerebelläre Hypoplasie (CH)
Cerebellar hypoplasia (CH)
General description
A mutation in the RELN gene has been identified in White Swiss Shepherd dogs that causes cerebellar hypoplasia (CH). Affected puppies were born clinically normal, but then failed to gain weight and developed progressive ataxia at around 2 weeks of age. They showed difficulties in standing, walking in a straight line and latching onto the teat, even though the suckling reflex is good. Due to worsening of the symptoms, the puppies had to be euthanized at the age of 4 weeks.
Breeds
White Swiss Shepherd Dog
Order details
| Test number | 8868 |
| Abbreviation | CH |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2 weeks |
| Causality | causally |
| Gene | RELN |
| Mutation | DEL |
| Literature | OMIA:001867-9615 |
Detailed description
A mutation in the RELN gene has been identified in White Swiss Shepherd dogs that causes cerebellar hypoplasia (CH), a condition where the cerebellum does not develop fully. Affected puppies were born clinically normal, but then they failed to gain weight and developed progressive ataxia at around 2 weeks of age. Affected puppies showed difficulties in standing, walking in a straight line and latching onto the teat, even though the suckling reflex is good. Due to worsening of the symptoms, the puppies had to be euthanized at the age of 4 weeks. Post-mortem examination revealed abnormalities in the brains with severe CH with lissencephaly (abnormal structure of cortical surface folds) and moderate internal hydrocephalus with enlarged lateral vertricles and fourth ventricle.
