Hereditary canine spinal muscular atrophy

J Neuropathol Exp Neurol. 1979 May;38(3):209-21. doi: 10.1097/00005072-197905000-00002.


Hereditary canine spinal muscular atrophy is a newly recognized motor neuron disease occurring in Brittany Spaniels. The clinical manifestations, pattern of inheritance, electrodiagnostic findings, and muscle biopsies have features in common with human spinal muscular atrophy. Neuropathological examination discloses some loss of motor neurons in the spinal cord and brainstem. Many of the surviving motor neurons have neurofibrillary swellings in proximal axons, an abnormality similar to that which occurs early in the course of human amyotrophic lateral sclerosis. These axonal swellings are filled with maloriented skeins of neurofilaments. Since the proteins comprising neurofilaments are carried by slow axonal transport, their accumulation within axons suggest that the swellings may result from impaired slow transport, a hypothesis that can be tested in affected Brittany Spaniels. Hereditary canine spinal muscular atrophy is a new genetic, clinical, and pathological entity, and, at present, it appears to be the best currently available animal model of motor neuron disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Brain Stem / pathology
  • Dog Diseases / genetics*
  • Dogs
  • Female
  • Hypoglossal Nerve / pathology
  • Male
  • Motor Neurons* / pathology
  • Muscles / innervation
  • Muscles / pathology
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Atrophy / veterinary*
  • Neurofibrils / pathology
  • Neuromuscular Diseases / genetics
  • Neuromuscular Diseases / pathology
  • Neuromuscular Diseases / veterinary*
  • Pedigree
  • Spinal Cord / pathology
  • Spinal Cord Diseases / genetics
  • Spinal Cord Diseases / pathology
  • Spinal Cord Diseases / veterinary*