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Article

An intronic variant in Ferredoxin Reductase (FDXR) creates a cryptic exon in Quarter Horses with Equine Juvenile Spinocerebellar Ataxia.

PLoS genetics - 1 May 2026

Brown Briana N, Dahlgren Anna R, Ghosh Sharmila, Durbin-Johnson Blythe, Willis Andrew, Olivas Cassandra, York Daniel, Grahn Robert, Bellone Rebecca R, Cortopassi Gino A, Miller Andrew D, Brown C Titus, Woolard Kevin, Finno Carrie J

Abstract excerpt

Equine Juvenile Spinocerebellar Ataxia (EJSCA) is a novel autosomal recessive neurologic disease in Quarter Horses. Affected foals display a progressive proprioceptive ataxia by 1-5 weeks of age, leading to recumbency and necessitating euthanasia. Whole genome sequencing was performed on 7 EJSCA cases and unaffected horses that included 4 obligate carriers, 4 unaffected half or full-siblings, and 28 unrelated,...

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Source

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Identifiers

PMID: 42160398
DOI: 10.1371/journal.pgen.1012158
PMCID: PMC13215600

Genes

FDXR
FADS6
GRIN2C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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