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Charlevoix-Saguenay spastic ataxia


Affected gene: SACS
 Inheritance: Autosomal recessive
 Mutation: ENSCAFT00030020331.1 chr25 c.12731_12734del
 OMIA link: 002780-9615


Breeds recommended for testing: Great Pyrenees




Symptoms:
Degeneration of the central nervous system leading to progressive cerebellar ataxia and spasticity, associated with peripheral neuropathy.




References:
Ekenstedt, K.J., Minor, K.M., Shelton, G.D., Hammond, J.J., Miller, A.D., Taylor, S.M., Huang, Y., Mickelson, J.R.: A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration. Human Genetics 142:1587–1601, 2023.
PubMed ID: 37758910
DOI: 10.1007/s00439-023-02599-1

Spastic ataxia (SACS gene)

C$65.00Price

5 tests et + 55$ch.

Quantity

After we receive your samples at the laboratory, please allow 10 to 15 business days for your results to be sent.

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