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

ABSTRACT:

Background

In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration.

Hypothesis/objectives

Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed.

Animals

Five affected Bouvier des Ardennes puppies with spinocerebellar ataxia (SCA), 8 healthy related dogs, and 63 healthy unrelated Bouvier des Ardennes.

Methods

Sequential case study.

Results

Clinical signs started at 6 weeks of age in 1 puppy with severe signs of cerebellar disease, and at 7 to 10 weeks of age in the 4 remaining puppies with milder signs of spinocerebellar disease. The first puppy displayed severe intention tremors and rapidly progressive generalized hypermetric ataxia, whereas the

SUBMITTER: Stee K 

PROVIDER: S-EPMC9889618 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature