Spinal dysraphism (NTD)
Spinal dysraphism (NTD)
General description
Neural tube defects result from abnormal closure or development of the neuronal tube during embryogenesis. A genetic variant has been found to cause spinal dysraphism, which is a non-progressiv ataxia and is characterised by the following symptoms: abnormal hair streams along the back, kinked tails, scoliosis in the lumbar spinal region, paraparesis, “bunny-hopping”, crouched stance.
Breeds
Weimaraner
Order details
| Test number | 8605 |
| Abbreviation | NTD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | morphological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | NKX2-8 |
| Mutation | COMPLEX |
| Literature | OMIA:000938-9615 |
Detailed description
Neural tube defects result from abnormal closure or development of the neuronal tube during embryogenesis. In the Weimaraner breed, a mutation of the regulatory homebox gene NKX2-8, which is expressed in the developing tube, could be found to be associated with the neural tube defect, termed spinal dysraphism. The spinal dysraphism is a non-progressiv ataxia and is characterised by the following symptoms: abnormal hair streams along the back, kinked tails, scoliosis in the lumbar spinal region, paraparesis, “bunny-hopping”, crouched stance.
