Abstract
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.
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Abbreviations
- RT-PCR:
-
reverse transcription–PCR
- SMA:
-
spinal muscular atrophy
- SMN :
-
telomeric survival of motor neuron gene
- 5qSMA:
-
SMA due to mutations of SMN
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This work was supported by grants from the National Institute of Child Health and Human Development (HD 39888), the National Institute of Research Resources (RR 15388), and the Companion Animal Fund of Michigan State University College of Veterinary Medicine.
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He, Q., Lowrie, C., Shelton, G. et al. Inherited Motor Neuron Disease in Domestic Cats: A Model of Spinal Muscular Atrophy. Pediatr Res 57, 324–330 (2005). https://doi.org/10.1203/01.PDR.0000153625.46892.6F
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DOI: https://doi.org/10.1203/01.PDR.0000153625.46892.6F
