Familial Amaurotic Idiocy in Male German Shorthair Pointers

Abstract

Amaurotic idiocy was recognized in a family of German shorthair pointers. The disease affected only males and their familial relation indicated that this apparently sex-linked condition was probably inherited as a recessive character. The animals developed mental regression, ataxia, and impaired vision. The progressive disease started slowly at about six months and made euthanasia necessary at the age of 10 to 18 months. One of the dogs was investigated pathologically. The characteristic lesion consisted of degeneration and enlargement of neurons throughout the central nervous system, including the retina. The cytoplasm of the neurons was engorged by a glyco-lipoid-protein complex containing neuraminic acid indicating the presence of gangliosides. The disease closely resembled late infantile familial amaurotic idiocy (Bielschowsky) in man.