Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a missense variant
In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed. Five affected Bouvier des Ardennes puppies with spinocerebellar ataxia (SCA),...
| Autores: | , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:271590 |
| Acceso en línea: | https://ddd.uab.cat/record/271590 https://dx.doi.org/urn:doi:10.1111/jvim.16594 |
| Access Level: | acceso abierto |
| Palabra clave: | Demyelinating myelopathy Hypermetric ataxia Intention tremors SAMS SDCA Spongy degeneration |
| Sumario: | In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed. Five affected Bouvier des Ardennes puppies with spinocerebellar ataxia (SCA), 8 healthy related dogs, and 63 healthy unrelated Bouvier des Ardennes. Sequential case study. 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. |
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