Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.
Andrew T WillisAnna R DahlgrenKevin D WoolardSharmila GhoshCallum G DonnellyAndres de la Concha-BermejilloAna PachecoKatherine D WatsonEmily H BerryhillMonica R AlemanFiona WensleySarah HumphreysAshley E WhiteheadDayna GoldsmithBerkley ChesenJohn RagsdaleJames E TompkinsRon NashAmanda H PlunkettHeath J QuallsKatarina RodriguezDamaris HochanadelAndrew D MillerCarrie J FinnoPublished in: Journal of veterinary internal medicine (2024)
EJSCA is a uniformly fatal, rapidly progressive, likely autosomal recessive neurological disease of QHs <1 month of age in North America that is etiologically distinct from other clinically similar neurological disorders. Once the causative variant for EJSCA is validated, carriers can be identified through genetic testing to inform breeding decisions.