Inherited motor neuron disease in domestic cats: A model of spinal muscular atrophy

Qianchuan He, Charles Lowrie, G. Diane Shelton, Rudy J. Castellani, Marilyn Menotti-Raymond, William Murphy, Stephen J. O'Brien, William F. Swanson, John C. Fyfe*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Juvenile-onset spinal muscular atrophy was observed in an extended family of purebred domestic cats as a fully penetrant, simple autosomal recessive trait. Affected kittens exhibited tremor, proximal muscle weakness, and muscle atrophy beginning at ∼4 mo of age. Apparent loss of function was rapid initially but progressed slowly after 7-8 mo of age, and variably disabled cats lived for at least 8 y. Electromyography and microscopic examination of muscle and nerve biopsies were consistent with denervation atrophy as a result of a central lesion. There was astrogliosis and dramatic loss of motor neurons in ventral but not dorsal horn gray matter of spinal cord and loss of axons in ventral horn nerve roots. These phenotypic findings were similar to mild forms (type III) of spinal muscular atrophy in humans caused by survival of motor neuron mutations, but molecular analysis excluded feline survival of motor neuron as the disease gene in this family. A breeding colony has been established for further investigation of this naturally occurring large-animal model of inherited motor neuron disease.

Original languageEnglish (US)
Pages (from-to)324-330
Number of pages7
JournalPediatric research
Issue number3
StatePublished - Mar 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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