Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a missense variant
Stee, Kimberley (Ghent University)
Van Poucke, Mario (Ghent University)
Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals)
Geerinckx, Lise (University of Ghent)
Van Soens, Iris (University of Liège)
Bhatti, Sofie F. M. (Ghent University)
Peelman, Luc (Ghent University)
Cornelis, Ine (Ghent University)

Data:	2022
Resum:	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>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. 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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Demyelinating myelopathy ; Hypermetric ataxia ; Intention tremors ; SAMS ; SDCA ; Spongy degeneration
Publicat a:	Journal of Veterinary Internal Medicine, Vol. 37 (november 2022) , p. 216-222, ISSN 1939-1676

DOI: 10.1111/jvim.16594
PMID: 36426918

7 p, 1.6 MB

El registre apareix a les col·leccions:
Articles > Articles de recerca
Articles > Articles publicats