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Autosomal dominant inheritance of hereditary canine spinal muscular atrophy
Author(s) -
Sack George H.,
Cork Linda C.,
Morris Jeanette M.,
Griffin John W.,
Price Donald L.
Publication year - 1984
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410150411
Subject(s) - spinal muscular atrophy , beagle , disease , heterozygote advantage , biology , motor neuron , pathology , degenerative disease , phenotype , atrophy , progressive muscular atrophy , allele , medicine , genetics , amyotrophic lateral sclerosis , gene
Hereditary canine spinal muscular atrophy (HCSMA) is a motor neuron disease in Brittany spiniels. 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 kindered 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.