Ekenstedt Kari J, Oberbauer Anita M
Department of Animal and Food Science, College of Agriculture, Food, and Environmental Sciences, University of Wisconsin - River Falls, River Falls, WI, USA.
Top Companion Anim Med. 2013 May;28(2):51-8. doi: 10.1053/j.tcam.2013.07.001.
Epilepsy is the most common neurologic disease in dogs and many forms are considered to have a genetic basis. In contrast, some seizure disorders are also heritable, but are not technically defined as epilepsy. Investigation of true canine epilepsies has uncovered genetic associations in some cases, however, many remain unexplained. Gene mutations have been described for 2 forms of canine epilepsy: primary epilepsy (PE) and progressive myoclonic epilepsies. To date, 9 genes have been described to underlie progressive myoclonic epilepsies in several dog breeds. Investigations into genetic PE have been less successful, with only 1 causative gene described. Genetic testing as an aid to diagnosis, prognosis, and breeding decisions is available for these 10 forms. Additional studies utilizing genome-wide tools have identified PE loci of interest; however, specific genetic tests are not yet developed. Many studies of dog breeds with PE have failed to identify genes or loci of interest, suggesting that, similar to what is seen in many human genetic epilepsies, inheritance is likely complex, involving several or many genes, and reflective of environmental interactions. An individual dog's response to therapeutic intervention for epilepsy may also be genetically complex. Although the field of inherited epilepsy has faced challenges, particularly with PE, newer technologies contribute to further advances.
癫痫是犬类中最常见的神经系统疾病,许多类型被认为具有遗传基础。相比之下,一些癫痫发作性疾病也具有遗传性,但严格来说并不被定义为癫痫。对真正的犬类癫痫的研究在某些情况下发现了遗传关联,然而,许多情况仍无法解释。已经描述了两种犬类癫痫的基因突变:原发性癫痫(PE)和进行性肌阵挛癫痫。迄今为止,已经描述了9个基因是几种犬种进行性肌阵挛癫痫的基础。对遗传性PE的研究不太成功,仅描述了1个致病基因。针对这10种类型,可进行基因检测以辅助诊断、预后评估和繁殖决策。利用全基因组工具的其他研究已经确定了感兴趣的PE基因座;然而,尚未开发出具体的基因检测方法。许多对患有PE的犬种的研究未能确定感兴趣的基因或基因座,这表明,与许多人类遗传性癫痫一样,其遗传方式可能很复杂,涉及几个或许多基因,并反映了环境相互作用。一只狗对癫痫治疗干预的反应在遗传上也可能很复杂。尽管遗传性癫痫领域面临挑战,尤其是PE方面,但新技术有助于取得进一步进展。