Biology Faculty Articles
Title
Inherited Motor Neuron Disease in Domestic Cats: A Model of Spinal Muscular Atrophy
Document Type
Article
Publication Date
3-2005
Publication Title
Pediatric Research
ISSN
0031-3998
Volume
57
Issue/No.
3
First Page
324
Last Page
330
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.
Additional Comments
National Institute of Child Health and Human Development grant #: HD 39888; National Institute of Research Resources grant #: RR 15388
NSUWorks Citation
He, Qianchuan; Charles Lowrie; G. Diane Shelton; Rudy J. Castellani; Marilyn Menotti-Raymond; William J. Murphy; Stephen J. O'Brien; William Swanson; and John C. Fyfe. 2005. "Inherited Motor Neuron Disease in Domestic Cats: A Model of Spinal Muscular Atrophy." Pediatric Research 57, (3): 324-330. https://nsuworks.nova.edu/cnso_bio_facarticles/577
ORCID ID
0000-0001-7353-8301
ResearcherID
N-1726-2015
Comments
©2005 International Pediatric Research Foundation, Inc.