Globoidzellleukodystrophie
Globoid cell leukodystrophy (Krabbe-disease)
General description
Symptoms of globoidcell leucodystrophy are ataxia, paresis of the hind legs and neurologic degeneration. After onset (1-3months) the disease progresses. Affected animals are usually euthanased till to the age of 10 months.
Breeds
Cairn Terrier, Irish Red Setter, West Highland White Terrier
Order details
| Test number | 8007 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Inheritance | autosomal recessive |
Detailed description
Globoidcell leucodystrophy is a lipid storage disorder with progressive degeneration of the white substance of the central nervous system (CNS). The disease is caused by a genetically caused lack of the enzyme galactocerebrosid betagalactosidase. This enzyme is responsible for the lysosomal metabolism of certain galactolipids. Due to the lack of enzyme, these lipids are deposited in the CNS particularly in the multi-nucleated giant cells (globoidcells). The globoidcell leucodystrophy manifests itself in affected dogs at the age of 1-3 months, beginning with ataxia and paresis of the hind legs. During the progress of the disease, muscular atrophy and neurological degeneration oocur. Due to the lack treatment possibilities, the affected animals are usually euthanased after 10 months at the latest.
