Alexander disease (AxD)

LABOKLIN Service ID: 8601

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.

Method	sequencing
Breed list	Labrador Retriever
Heredity	autosomal dominant
Duration	1 - 2 weeks after arrival of the sample in the lab