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Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar
John C Fyfe1, Raba' A Al-Tamimi, Rudy J Castellani
1Laboratory of Comparative Medical Genetics, Department of Microbiology & Molecular Genetics, Michigan State University, East Lansing, Michigan 48824, USA. fyfe@cvm.msu.edu
The Journal of Comparative Neurology
|July 24, 2010
Summary
A novel canine neuroaxonal dystrophy causes fetal akinesia and severe neurological deficits. This autosomal recessive disorder in dogs offers a unique model for studying infantile neuroaxonal dystrophy (INAD) and discovering new disease genes.
Area of Science:
- Veterinary Neurology
- Comparative Pathology
- Canine Genetics
Background:
- A spontaneous canine neuroaxonal dystrophy presents with fetal akinesia and severe congenital defects.
- Affected puppies exhibit limb positioning abnormalities, scoliosis, arthrogryposis, and respiratory failure.
- Gross pathology reveals cerebellar and spinal cord hypoplasia.
Purpose of the Study:
- To characterize the clinical, pathological, and genetic features of a novel canine neuroaxonal dystrophy.
- To investigate the potential homology with human infantile neuroaxonal dystrophy (INAD).
- To establish the canine model for further gene discovery.
Main Methods:
- Ultrasonographic examination for fetal akinesia.
- Gross necropsy and histopathological examination of affected puppies.
- Autosomal recessive inheritance pattern determined through breeding studies.
Main Results:
- Histopathology revealed swollen axons, spheroids, neuronal loss in the central nervous system, and peripheral nerve abnormalities.
- Skeletal muscle showed increased myocyte apoptosis and joint abnormalities.
- The canine disorder shares lesion characteristics with human INAD but did not associate with the PLA2G6 gene locus.
Conclusions:
- The canine disorder is a fully penetrant, simple autosomal recessive trait.
- This provides a valuable large animal model for studying neuroaxonal dystrophies.
- Further research in this canine model can aid in discovering novel disease genes and understanding INAD pathogenesis.
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