Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.

Kimberley Stee Mario Van PouckeMartí PumarolaLise GeerinckxIris Van SoensSofie F M BhattiLuc PeelmanIne Cornelis

Published in: Journal of veterinary internal medicine (2022)

Inherited spinocerebellar degeneration also affects the Bouvier des Ardennes breed and is caused by a KCNJ10 variant. It can present with a spectrum of severity grades, ranging from severe cerebellar to milder spinocerebellar signs.

Keyphrases

early onset
intellectual disability
autism spectrum disorder