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Article

A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.

Human genetics - 1 Nov 2023

Ekenstedt Kari J, Minor Katie M, Shelton G Diane, Hammond James J, Miller Andrew D, Taylor Susan M, Huang Yanyun, Mickelson James R

Abstract excerpt

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...

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Identifiers

PMID: 37758910
DOI: 10.1007/s00439-023-02599-1
PMCID: PMC10602964

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