A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
Kari J. Ekenstedt,
Katie M. Minor,
G. Diane Shelton
et al.
Abstract:ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A recently recognized disorder in Great Pyrenees dogs is similarly characterized by widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as 4 months of age, with slow progression over several years. A… Show more
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