Peer-reviewed veterinary case report
Spinocerebellar ataxia in Bouvier des Ardennes puppies
By Stee, Kimberley et al.·Published in Journal of veterinary internal medicine·2023·Small Animals Department·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.
- Species:
- dog
Plain-English summary
Five Bouvier des Ardennes puppies were diagnosed with spinocerebellar ataxia (SCA), a condition that affects coordination and balance. Symptoms began as early as 6 weeks old, with one puppy showing severe tremors and difficulty walking, leading to euthanasia by 8 weeks. The other four puppies had milder symptoms and were euthanized before they turned 11 months. Genetic testing revealed that all affected puppies carried a specific genetic variant linked to this condition, which is inherited in a recessive manner. Unfortunately, there is currently no cure for this genetic disorder, and affected puppies typically experience a decline in their ability to move.
People also search for: Bouvier des Ardennes puppy ataxia · dog tremors treatment · spinocerebellar ataxia in dogs · genetic disorders in Bouvier des Ardennes
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 4 others developed a milder progressive SCA. Euthanasia after progression to nonambulatory status was performed by 8 weeks of age in the first puppy, and before 11 months of age in the 4 remaining puppies. Histopathology revealed cerebellar spongy degeneration and a focal symmetrical demyelinating myelopathy. All cases were homozygous for KCNJ10 XM_545752.6:c.986T>C(p.(Leu329Pro)), which is pathogenic for SCA with (or without) myokymia, seizures or both (SAMS) and spongy degeneration and cerebellar ataxia (SDCA) 1 in Belgian Malinois dogs. All sampled parents were heterozygous and none of the healthy dogs were homozygous for this recessive variant. This variant has an allele frequency of 15% in the 63 healthy dogs studied. CONCLUSIONS AND CLINICAL IMPORTANCE: 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.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36426918/