{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T17:26:47Z","timestamp":1770226007897,"version":"3.49.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":1129,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T00:00:00Z","timestamp":1669334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>Five affected Bouvier des Ardennes puppies with spinocerebellar ataxia (SCA), 8 healthy related dogs, and 63 healthy unrelated Bouvier des Ardennes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Sequential case study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Clinical signs started at 6\u2009weeks of age in 1 puppy with severe signs of cerebellar disease, and at 7 to 10\u2009weeks 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\u2009weeks of age in the first puppy, and before 11\u2009months 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&amp;gt;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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and Clinical Importance<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.16594","type":"journal-article","created":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T09:07:39Z","timestamp":1669367259000},"page":"216-222","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5208-2605","authenticated-orcid":false,"given":"Kimberley","family":"Stee","sequence":"first","affiliation":[{"name":"Faculty of Veterinary Medicine, Ghent University Small Animals Department, , Merelbeke,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-8984","authenticated-orcid":false,"given":"Mario","family":"Van Poucke","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, Ghent University Department of Veterinary and Biosciences, , Merelbeke,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mart\u00ed","family":"Pumarola","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, Universitat Aut\u00f2noma de Barcelona Mouse and Comparative Pathology Unit, Department of Animal Medicine and Surgery, , Bellaterra (Barcelona),","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lise","family":"Geerinckx","sequence":"additional","affiliation":[{"name":"Pharmacology and Zoological Medicine, Faculty of Veterinary Medicine, University of Ghent Department of Pathobiology, , Ghent,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Van Soens","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Companion Animal Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofie F. 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