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

Kimberley Stee (UGent) , Mario Van Poucke (UGent) , Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie Bhatti (UGent) , Luc Peelman (UGent) and Ine Cornelis (UGent)
(2023) JOURNAL OF VETERINARY INTERNAL MEDICINE. 37(1). p.216-222
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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.
Keywords
General Veterinary, demyelinating myelopathy, hypermetric ataxia, intention tremors, SAMS, SDCA, spongy degeneration, SENSORINEURAL DEAFNESS, SPONGY DEGENERATION, CEREBELLAR-ATAXIA, MYOKYMIA, DOGS, NEUROMYOTONIA, TUBULOPATHY, MUTATIONS, EPILEPSY

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MLA
Stee, Kimberley, et al. “Spinocerebellar Ataxia in the Bouvier Des Ardennes Breed Is Caused by a  KCNJ10 Missense Variant.” JOURNAL OF VETERINARY INTERNAL MEDICINE, vol. 37, no. 1, 2023, pp. 216–22, doi:10.1111/jvim.16594.
APA
Stee, K., Van Poucke, M., Pumarola, M., Geerinckx, L., Van Soens, I., Bhatti, S., … Cornelis, I. (2023). Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a  KCNJ10 missense variant. JOURNAL OF VETERINARY INTERNAL MEDICINE, 37(1), 216–222. https://doi.org/10.1111/jvim.16594
Chicago author-date
Stee, Kimberley, Mario Van Poucke, Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie Bhatti, Luc Peelman, and Ine Cornelis. 2023. “Spinocerebellar Ataxia in the Bouvier Des Ardennes Breed Is Caused by a  KCNJ10 Missense Variant.” JOURNAL OF VETERINARY INTERNAL MEDICINE 37 (1): 216–22. https://doi.org/10.1111/jvim.16594.
Chicago author-date (all authors)
Stee, Kimberley, Mario Van Poucke, Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie Bhatti, Luc Peelman, and Ine Cornelis. 2023. “Spinocerebellar Ataxia in the Bouvier Des Ardennes Breed Is Caused by a  KCNJ10 Missense Variant.” JOURNAL OF VETERINARY INTERNAL MEDICINE 37 (1): 216–222. doi:10.1111/jvim.16594.
Vancouver
1.
Stee K, Van Poucke M, Pumarola M, Geerinckx L, Van Soens I, Bhatti S, et al. Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a  KCNJ10 missense variant. JOURNAL OF VETERINARY INTERNAL MEDICINE. 2023;37(1):216–22.
IEEE
[1]
K. Stee et al., “Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a  KCNJ10 missense variant,” JOURNAL OF VETERINARY INTERNAL MEDICINE, vol. 37, no. 1, pp. 216–222, 2023.
@article{01GM2TV1QHKGAET2V58Y9P4HTY,
  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.}},
  author       = {{Stee, Kimberley and Van Poucke, Mario and Pumarola, Martí and Geerinckx, Lise and Van Soens, Iris and Bhatti, Sofie and Peelman, Luc and Cornelis, Ine}},
  issn         = {{0891-6640}},
  journal      = {{JOURNAL OF VETERINARY INTERNAL MEDICINE}},
  keywords     = {{General Veterinary,demyelinating myelopathy,hypermetric ataxia,intention tremors,SAMS,SDCA,spongy degeneration,SENSORINEURAL DEAFNESS,SPONGY DEGENERATION,CEREBELLAR-ATAXIA,MYOKYMIA,DOGS,NEUROMYOTONIA,TUBULOPATHY,MUTATIONS,EPILEPSY}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{216--222}},
  title        = {{Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a  KCNJ10 missense variant}},
  url          = {{http://doi.org/10.1111/jvim.16594}},
  volume       = {{37}},
  year         = {{2023}},
}
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