Alexander disease (AxD)
Alexander disease (AxD)
General description
Affected dogs develop progressively worsening tetraparesis with a spastic position of the thoracic limbs and flattened chest. Later on, myoclonic jerks at the head and the cervical region, abscent patellar reflexes, weakness on the four limbs and mild generalized muscle atrophy become obvious. The pups have to be euthanized at the age of about 4 months.
Breeds
Labrador Retriever
Order details
| Test number | 8601 |
| Abbreviation | AxD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | GFAP |
| Mutation | G-A |
| Literature | OMIA:001208-9615 |
Detailed description
Alexander disease is a fatal neurodegenerative disorder of astrocyte dysfunction in man, mostly caused by a misssense variation in the glial fibrillary acid protein (GFAP), which is a main part of the intermediate filament network of astrocytes. A similar disorder was found in a Labrador retriever. The dog developed progressively worsening tetraparesis with a spastic position of the thoracic limbs and flattened chest. Later on, myoclonic jerks at the head and the cervical region, abscent patellar reflexes, weakness on the four limbs and mild generalized muscle atrophy became obvious. The pup was euthanized at the age of 4.5 months.
