Neonatal Cerebellar Ataxia – Coton de Tulear and Havanese
Kodas: H410
Short description
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds.
General information
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds. This variant, known as Neonatal Cerebellar Ataxia (NCA) and sometimes as as Bandera’s Neonatal Ataxia (BNAt), is an autosomal recessive disease found in Coton de Tulear and Havanese dogs. It is caused by a mutation to the gene GRM1.
Specifications
| Breeds | |
|---|---|
| Gene | GRM1 |
| Chromosome | 1 |
| Mutation | c.2331_2332ins62bp |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | BNAt; NCA |
Clinical features
Neurologic examination shows head titubation, intention tremors, severe gait and ocular ataxia at two weeks of age. Most puppies are unable to walk and use propulsive movements for goal-oriented activities. The puppies would fall to lateral recumbency with consecutive decerebellate paddling and posturing.
Additional information
Phenotypically related ataxias dogs could have a mutation in another gene variant, including ATP1B2, CAPN1, ITPR1, KCNJ10, RAB24, SEL1L, SNX14 and SPTBN2.
References
Pubmed ID: 21281350
Year published: 2011
Omia ID: 78
Omia variant ID:
Turnaround information
- 10 working days