Description: The first symptoms of hypermetria (movement coordination disorders), movement as bunny-hopping, wobbly, stiff gait and difficulty walking up stairs and getting up in affected dogs appear between 4 and 19 months. The first neurological examination revealed moderate ataxia. At a later stage, tetraparesis, tetraplegia and multifocal damage to the central nervous system occur. The causative mutation was found in the PNPLA8 gene encoding a phospholipase that is likely involved in mitochondrial lipid metabolism and is essential for mitochondrial function. The mutation causes a frameshift and creates a premature stop codon, resulting in the protein being halved. Comparable neurodegenerative diseases caused by similar mutations in the PNPLA8 gene have been described in humans, mice, and cattle.
Inheritance: autosomal recessive
Mutation: c.1169_1170dupTT in PNPLA8 (Patatin Like Phospholipase Domain Containing 8) gene, p.(His391PhefsTer394)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Australian Shepherd
Notes:
