Recap of Harvey with X linked spontaneous mutation & Border Collie with SMN

[Guest guest]

(Note: one of the authors of this research, G. Diane Shelton, also

did the research on " Harvey " - the male Leonberger Dog that I wrote

an article for in CMT Today Magazine, several years ago. Harvey died

at ate 5 and in Muscle and Nerve, Vol. 27, Issue 4, 2003, pgs 471 -

477, Dr. Shelton and her global colleagues presented their findings

on peripheral neuropathy especially affecting large breed dogs, such

as Rottweilers, Labradors and Newfoundlands. In Harvey, a spontaneous

inherited axonal neuropathy was found and presented new information

on spontaneous X linked inheritance.

J Am Vet Med Assoc. 2005 Oct 15;227(8):1263-5, 1250.

Sensory and motor neuropathy in a Border Collie.

Harkin KR, Cash WC, Shelton GD.

Department of Clinical Sciences, College of Veterinary Medicine,

Kansas State University, Manhattan, KS 66506, USA.

A 5-month-old female Border Collie was evaluated because of

progressive hind limb ataxia. The predominant clinical findings

suggested a sensory neuropathy. Sensory nerve conduction velocity was

absent in the tibial, common peroneal, and radial nerves and was

decreased in the ulnar nerve; motor nerve conduction velocity was

decreased in the tibial, common peroneal, and ulnar nerves.

Histologic examination of nerve biopsy specimens revealed

considerable nerve fiber depletion; some tissue sections had myelin

ovoids, foamy macrophages, and axonal degeneration in remaining

fibers. Marked depletion of most myelinated fibers within the

peroneal nerve (a mixed sensory and motor nerve) supported the

electrodiagnostic findings indicative of sensorimotor neuropathy.

Progressive deterioration in motor function occurred over the

following 19 months until the dog was euthanatized. A hereditary link

was not established, but a littermate was similarly affected. The

hereditary characteristic of this disease requires further

investigation.