CNS Atrophy with Cerebellar Ataxia (CACA) – Belgian Shepherd
Kodas: H950
Short description
Central nervous system (CNS) atrophy with cerebellar ataxia (CACA) is a neurological condition observed in Belgian Shepherds (or Belgian Malinois).
General information
Central nervous system (CNS) atrophy with cerebellar ataxia (CACA) is a neurological condition observed in Belgian Shepherds (or Belgian Malinois). It is caused by a mutation in the SELENOP gene, which lead to a defect in selenium transport.
Affected puppies display uncoordinated movements and intention tremors at two weeks of age and might need to be euthanized on humane grounds.
The disease is is caused by an autosomal recessive deletion in the SEPP1 gene (a.k.a. SELENOP), which is associated with a defect in selenium transport to the CNS.
Specifications
| Breeds | |
|---|---|
| Gene | SEPP1 a.k.a. SELENOP |
| Mutation | c.-6582_*516del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CACA |
Clinical features
CACA is characterized by irregular and clumsy movements, decreased coordination, tremors and short episodes of spastic fits. There can also be a general elevated muscle tone and a reduced swallowing reflex. The body weight of the puppies seems to be lower in affected puppies, compared to unaffected littermates. After about 2 weeks of age initial symptoms could be observed in the puppies.
Additional information
The severity of clinical symptoms are highly variable and relatively non-specific. This makes it hard to distinguish between this variant of ataxia with others such as SDCA1, SDCA2).
References
Pubmed ID: 34339417
Year published: 2021
Omia ID: 2367
Omia variant ID:
Turnaround information
- 10 working days