Gangliosidosis (GM2 Type II) – Cat All Breeds
Kodas: K309
Short description
Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes.
General information
Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in all cat breeds.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | HEXB |
| Chromosome | A1 |
| Mutation | c.1467_1491inv25 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM2, variant 0; Sandhoff |
Clinical features
Cats affected with GM2 show progressive neuromuscular dysfunction and impaired growth from an early age. Affected kittens have head tremors at the beginning followed by impaired coordination of leg movements which eventually lead to paralysis.
References
Pubmed ID: 15081585
Year published: 2004
Omia ID: 1462
Omia variant ID:
Turnaround information
- 10 working days