Description: The first cases of progressive early-onset polyneuropathy occurred in the Alaskan Malamute population in Norway in the late 1970s. The affected dogs were of both sexes and were paraparetic, progressing to tetraparesis. Neurological examination of the affected dogs showed mainly laryngeal paresis, decreased postural reactions, decreased spinal reflexes, and muscle atrophy. The disease was considered eradicated through breeding programs, but new cases have recently occurred in the Nordic countries and the United States.
Clinical symptoms usually begin at 3 to 19 months of age. In addition to paraparesis, there may be other typical neurological symptoms such as gait disturbance, inspiratory stridor (manifested as whistling to hoarse sound when inhaling), muscle weakness, intolerance to exercise.
A causal mutation was discovered in the NDGR1 gene (N-myc downstream-regulated gene). The NDGR1 gene encodes a cytoplasmic protein involved in stress-responses, hormonal responses, cell growth, and differentiation (Drögemüller et al, 2010). Symptoms of polyneuropathy occur in affected individuals due to altered protein function (Bruun et al., 2013).
Inheritance: autosomal recessive
Mutation: c.293G˃T in 4 exon NDRG1 gene, (p.Gly98Val)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Alaskan Malamute, Alaskan Husky