Clinic of Small Animal Medicine, Ludwig-Maximilians-University, Munich, Germany.
J Vet Intern Med. 2012 Jan-Feb;26(1):116-25. doi: 10.1111/j.1939-1676.2011.00853.x. Epub 2011 Dec 19.
Idiopathic epilepsy (IE) in Australian Shepherds (ASs) occurs worldwide but there is a lack of description of the epilepsy syndrome in this breed. The ABCB1-1Δ mutation is more prevalent in ASs than in many other dog breeds.
Australian Shepherds suffer from a poorly controlled IE syndrome with prevailing severe courses. Seizure control and ABCB1-1Δ mutation might be related in this breed.
Fifty ASs diagnosed with IE and 50 unaffected ASs.
Predominant study design is a longitudinal cohort study. Pedigrees, medical records, seizure, and treatment data of ASs with IE were analyzed descriptively. Sex, color, and the ABCB1-1Δ genotype were compared between case and control groups and ASs with poorly or well-controlled seizures. Differences in survival times were assessed by logrank tests and Cox regression analysis.
Idiopathic epilepsy in ASs is dominated by moderate and severe clinical courses with the occurrence of cluster seizures and status epilepticus and a high seizure frequency. Poor seizure control and a high initial seizure frequency (≥10 seizure days/first 6 months) are associated with shorter survival times (P < .05). Poor seizure control, unrelated to the ABCB1(MDR1) genotype, is evident in 56% of epileptic ASs. Pedigree analysis suggests a genetic basis.
Frequent severe clinical courses, poor seizure control unrelated to the ABCB1(MDR1) genotype, and a young age at death compromise animal welfare and warrant further genetic studies to unravel the underlaying molecular mechanisms of IE and seizure control in the breed.
澳大利亚牧羊犬(AS)的特发性癫痫(IE)在全球范围内发生,但这种疾病在该品种中的描述缺乏。ABCB1-1Δ 突变在 AS 中的流行率高于许多其他犬种。
澳大利亚牧羊犬患有控制不良的 IE 综合征,其主要表现为严重病程。癫痫发作的控制和 ABCB1-1Δ 突变可能与该品种有关。
50 只被诊断为 IE 的澳大利亚牧羊犬和 50 只未受影响的澳大利亚牧羊犬。
主要研究设计是纵向队列研究。对患有 IE 的澳大利亚牧羊犬的谱系、病历、癫痫发作和治疗数据进行描述性分析。对病例组和对照组以及癫痫发作控制不佳或良好的澳大利亚牧羊犬的性别、颜色和 ABCB1-1Δ 基因型进行比较。通过对数秩检验和 Cox 回归分析评估生存时间的差异。
澳大利亚牧羊犬的特发性癫痫以中重度临床病程为主,伴有簇发性癫痫发作和癫痫持续状态,癫痫发作频率较高。癫痫发作控制不佳和初始癫痫发作频率较高(≥10 次癫痫发作/前 6 个月)与生存时间较短相关(P<.05)。与 ABCB1(MDR1)基因型无关的癫痫发作控制不佳在 56%的癫痫发作的澳大利亚牧羊犬中明显。系谱分析表明存在遗传基础。
频繁的严重临床病程、与 ABCB1(MDR1)基因型无关的癫痫发作控制不佳以及死亡年龄较小会影响动物福利,需要进一步的遗传研究来阐明该品种 IE 和癫痫发作控制的潜在分子机制。