Autosomal dominant inheritance of hereditary canine spinal muscular atrophy.

Hereditary canine spinal muscular atrophy ( HCSMA ) is a motor neuron disease in Brittany spaniels. Three phenotypes are recognized (accelerated, intermediate, and chronic) and are distinguished on the basis of rate of progression and age at onset. Breeding studies within a kindred of more than 125 dogs (Brittany spaniel and beagle-Brittany outcrosses ) have established an autosomal dominant inheritance for HCSMA . Pups homozygous for the trait have accelerated disease whereas heterozygous dogs have intermediate or chronic disease. The reason for the two phenotypes in heterozygotes is under study. HCSMA provides a unique opportunity to study the genetic and pathophysiological mechanisms of a motor neuron disease, and findings may have broad relevance to investigations of autosomal dominant degenerative disorders of the central nervous system.